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dbVar

Database of genomic structural variation

nsv3918127

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:160,742

Description:NCBI36/hg18 1p35.3(chr1:28668094-28773957)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: 685 SVs from 53 studies. See in: genome view

Remapped(Score: Good):28,446,296-28,607,037

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
nsv3918127	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	28,446,296	28,446,296	28,607,037	28,607,037
nsv3918127	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	28,772,807	28,795,507	28,901,370	28,933,549
nsv3918127	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	28,645,394	28,668,094	28,773,957	28,806,136

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126691	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000452960.2, VCV000399322.2	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
nssv15126691	Remapped	Good	NC_000001.11:g.(28 446296_28446296)_( 28607037_28607037) dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	28,446,296	28,446,296	28,607,037	28,607,037
nssv15126691	Remapped	Perfect	NC_000001.10:g.(28 772807_28795507)_( 28901370_28933549) dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	28,772,807	28,795,507	28,901,370	28,933,549
nssv15126691	Submitted genomic		NC_000001.9:g.(286 45394_28668094)_(2 8773957_28806136)d up	NCBI36 (hg18)		NC_000001.9	Chr1	28,645,394	28,668,094	28,773,957	28,806,136

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
nssv15126691	NCBI36: NC_000001.9:g.(28645394_28668094)_(28773957_28806136)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000452960.2, VCV000399322.2	3

No genotype data were submitted for this variant

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