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

dbVar

Database of genomic structural variation

nsv3902798

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:2,696,720

Description:
GRCh37/hg19 17p13.3(chr17:525-2750745)x1 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: 19007 SVs from 113 studies. See in: genome view

Remapped(Score: Good):150,732-2,847,451

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3902798	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	150,732	2,847,451
nsv3902798	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	525	2,750,745

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15141689	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000510381.2, VCV000443265.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15141689	Remapped	Good	NC_000017.11:g.(?_ 150732)_(2847451_? )del	GRCh38.p12	First Pass	NC_000017.11	Chr17	150,732	2,847,451
nssv15141689	Submitted genomic		NC_000017.10:g.(?_ 525)_(2750745_?)de l	GRCh37 (hg19)		NC_000017.10	Chr17	525	2,750,745

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
nssv15141689	GRCh37: NC_000017.10:g.(?_525)_(2750745_?)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000510381.2, VCV000443265.2	1

No genotype data were submitted for this variant

You are here: NCBI