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

dbVar

Database of genomic structural variation

nsv6312112

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:84

Description:NC_000005.9:g.(?_61602300)_(61602383_?)del 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: 74 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):62,306,473-62,306,556

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6312112	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	62,306,473	62,306,556
nsv6312112	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	61,602,300	61,602,383

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17973209	deletion	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV002006114.2, VCV001486972.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17973209	Remapped	Perfect	NC_000005.10:g.(?_ 62306473)_(6230655 6_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	62,306,473	62,306,556
nssv17973209	Submitted genomic		NC_000005.9:g.(?_6 1602300)_(61602383 _?)del	GRCh37 (hg19)		NC_000005.9	Chr5	61,602,300	61,602,383

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
nssv17973209	GRCh37: NC_000005.9:g.(?_61602300)_(61602383_?)del	deletion	germline	not provided	Uncertain significance	ClinVar	RCV002006114.2, VCV001486972.2

No genotype data were submitted for this variant

You are here: NCBI