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dbVar

Database of genomic structural variation

nsv3919991

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:72,330

Description:NCBI36/hg18 17q12(chr17:31217110-31284277)x3 AND See cases

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 248 SVs from 48 studies. See in: genome view

Remapped(Score: Pass):35,846,919-35,919,248

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3919991	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	35,846,919	35,865,993	35,919,248	-
nsv3919991	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187614.1	Chr17\|NT_1 87614.1	81,451	100,525	153,780	-
nsv3919991	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	34,173,923	34,192,997	34,260,164	34,299,118
nsv3919991	Remapped	Pass	GRCh37.p13	PATCHES	Second Pass	NW_004166864.2	Chr17\|NW_0 04166864.2	139,087	158,161	211,416	-
nsv3919991	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000017.9	Chr17	31,198,036	31,217,110	31,284,277	31,323,231

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127392	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000452472.2, VCV000399090.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15127392	Remapped	Pass	NT_187614.1:g.(814 51_100525)_(153780 _?)dup	GRCh38.p12	Second Pass	NT_187614.1	Chr17\|NT_1 87614.1	81,451	100,525	153,780	-
nssv15127392	Remapped	Pass	NC_000017.11:g.(35 846919_35865993)_( 35919248_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	35,846,919	35,865,993	35,919,248	-
nssv15127392	Remapped	Pass	NW_004166864.2:g.( 139087_158161)_(21 1416_?)dup	GRCh37.p13	Second Pass	NW_004166864.2	Chr17\|NW_0 04166864.2	139,087	158,161	211,416	-
nssv15127392	Remapped	Perfect	NC_000017.10:g.(34 173923_34192997)_( 34260164_34299118) dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	34,173,923	34,192,997	34,260,164	34,299,118
nssv15127392	Submitted genomic		NC_000017.9:g.(311 98036_31217110)_(3 1284277_31323231)d up	NCBI36 (hg18)		NC_000017.9	Chr17	31,198,036	31,217,110	31,284,277	31,323,231

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127392	NCBI36: NC_000017.9:g.(31198036_31217110)_(31284277_31323231)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000452472.2, VCV000399090.2	3

No genotype data were submitted for this variant

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