Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6112720

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:78

Description:GRCh37/hg19 1p36.13(chr1:17345376-17345453)x1 AND not provided

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: 82 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):17,018,881-17,018,958

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6112720	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	17,018,881	17,018,958
nsv6112720	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	17,345,376	17,345,453

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17649897	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001532114.9, VCV001176539.10	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17649897	Remapped	Perfect	NC_000001.11:g.(?_ 17018881)_(1701895 8_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	17,018,881	17,018,958
nssv17649897	Submitted genomic		NC_000001.10:g.(?_ 17345376)_(1734545 3_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	17,345,376	17,345,453

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
nssv17649897	GRCh37: NC_000001.10:g.(?_17345376)_(17345453_?)del	copy number loss	germline	not provided	Pathogenic	ClinVar	RCV001532114.9, VCV001176539.10	1

No genotype data were submitted for this variant

You are here: NCBI