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dbVar

Database of genomic structural variation

nsv4728937

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:98,805

Description:GRCh37/hg19 15q21.1-21.2(chr15:49452059-49550863)x1 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: 394 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):49,159,862-49,258,666

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4728937	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	49,159,862	49,258,666
nsv4728937	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	49,452,059	49,550,863

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16254228	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001259213.1, VCV000980037.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16254228	Remapped	Perfect	NC_000015.10:g.(?_ 49159862)_(4925866 6_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	49,159,862	49,258,666
nssv16254228	Submitted genomic		NC_000015.9:g.(?_4 9452059)_(49550863 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	49,452,059	49,550,863

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
nssv16254228	GRCh37: NC_000015.9:g.(?_49452059)_(49550863_?)del	copy number loss	germline	not provided	Uncertain significance	ClinVar	RCV001259213.1, VCV000980037.1	1

No genotype data were submitted for this variant

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