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dbVar

Database of genomic structural variation

nsv4675702

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:4,014,509

Description:GRCh37/hg19 15q13.3-14(chr15:31675452-35689958)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: 13321 SVs from 137 studies. See in: genome view

Remapped(Score: Perfect):31,383,249-35,397,757

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4675702	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	31,383,249	35,397,757
nsv4675702	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187660.1	Chr15\|NT_1 87660.1	2,721,316	5,161,414
nsv4675702	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	31,675,452	35,689,958

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16208407	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001006673.1, VCV000815698.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16208407	Remapped	Pass	NT_187660.1:g.(?_2 721316)_(5161414_? )del	GRCh38.p12	Second Pass	NT_187660.1	Chr15\|NT_1 87660.1	2,721,316	5,161,414
nssv16208407	Remapped	Perfect	NC_000015.10:g.(?_ 31383249)_(3539775 7_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	31,383,249	35,397,757
nssv16208407	Submitted genomic		NC_000015.9:g.(?_3 1675452)_(35689958 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	31,675,452	35,689,958

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
nssv16208407	GRCh37: NC_000015.9:g.(?_31675452)_(35689958_?)del	copy number loss	germline	not provided	Pathogenic	ClinVar	RCV001006673.1, VCV000815698.1	1

No genotype data were submitted for this variant

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