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dbVar

Database of genomic structural variation

nsv3914783

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:66,249,329

Description:NCBI36/hg18 17p11.2-q25.3(chr17:16698288-20375302)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: 185193 SVs from 154 studies. See in: genome view

Remapped(Score: Pass):16,854,249-83,103,577

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nsv3914783	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	16,854,249	83,103,577	83,103,577
nsv3914783	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	16,757,563	81,048,189	-
nsv3914783	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000017.9	Chr17	16,698,288	20,375,302	78,654,742

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127236	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000450605.2, VCV000400125.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nssv15127236	Remapped	Pass	NC_000017.11:g.(?_ 16854249)_(8310357 7_83103577)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	16,854,249	83,103,577	83,103,577
nssv15127236	Remapped	Good	NC_000017.10:g.(?_ 16757563)_(8104818 9_?)dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	16,757,563	81,048,189	-
nssv15127236	Submitted genomic		NC_000017.9:g.(?_1 6698288)_(20375302 _78654742)dup	NCBI36 (hg18)		NC_000017.9	Chr17	16,698,288	20,375,302	78,654,742

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
nssv15127236	NCBI36: NC_000017.9:g.(?_16698288)_(20375302_78654742)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000450605.2, VCV000400125.2	3

No genotype data were submitted for this variant

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