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

dbVar

Database of genomic structural variation

nsv5980398

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:29,812

Description:Single allele 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: 168 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):15,230,916-15,260,727

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5980398	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	15,230,916	15,260,727
nsv5980398	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	15,134,233	15,164,044

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17517518	duplication	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001449875.5, VCV001120168.5
nssv17517519	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001449876.5, VCV001120169.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17517518	Remapped	Perfect	NC_000017.11:g.(?_ 15230916)_(1526072 7_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	15,230,916	15,260,727
nssv17517519	Remapped	Perfect	NC_000017.11:g.(?_ 15230916)_(1526072 7_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	15,230,916	15,260,727
nssv17517518	Submitted genomic		NC_000017.10:g.(?_ 15134233)_(1516404 4_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	15,134,233	15,164,044
nssv17517519	Submitted genomic		NC_000017.10:g.(?_ 15134233)_(1516404 4_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	15,134,233	15,164,044

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
nssv17517518	GRCh37: NC_000017.10:g.(?_15134233)_(15164044_?)dup	duplication	germline	not provided	Pathogenic	ClinVar	RCV001449875.5, VCV001120168.5
nssv17517519	GRCh37: NC_000017.10:g.(?_15134233)_(15164044_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001449876.5, VCV001120169.5

No genotype data were submitted for this variant

You are here: NCBI