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

dbVar

Database of genomic structural variation

nsv5381009

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:27,806

Description:NC_000017.10:g.(?_37856492)_(37884297_?)dup 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: 174 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):39,700,239-39,728,044

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381009	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	39,700,239	39,728,044
nsv5381009	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	37,856,492	37,884,297

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867342	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001351675.2, VCV001047031.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867342	Remapped	Perfect	NC_000017.11:g.(?_ 39700239)_(3972804 4_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	39,700,239	39,728,044
nssv16867342	Submitted genomic		NC_000017.10:g.(?_ 37856492)_(3788429 7_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	37,856,492	37,884,297

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
nssv16867342	GRCh37: NC_000017.10:g.(?_37856492)_(37884297_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001351675.2, VCV001047031.2

No genotype data were submitted for this variant

You are here: NCBI