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

dbVar

Database of genomic structural variation

nsv6137670

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:133,566

Description:Single allele 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: 293 SVs from 43 studies. See in: genome view

Submitted genomic72,371,236-72,504,801

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6137670	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	72,371,236	72,504,801
nsv6137670	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	72,598,365	72,731,930

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17683416	deletion	Multiple	Multiple	See cases	not provided	ClinVar	RCV001568388.1, VCV001180431.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17683416	Submitted genomic		NC_000002.12:g.723 71236_72504801del	GRCh38 (hg38)		NC_000002.12	Chr2	72,371,236	72,504,801
nssv17683416	Remapped	Perfect	NC_000002.11:g.725 98365_72731930del	GRCh37.p13	First Pass	NC_000002.11	Chr2	72,598,365	72,731,930

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
nssv17683416	GRCh38: NC_000002.12:g.72371236_72504801del	deletion	maternal	See cases	not provided	ClinVar	RCV001568388.1, VCV001180431.1	1

No genotype data were submitted for this variant

You are here: NCBI