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dbVar

Database of genomic structural variation

nsv4683362

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:111,025

Description:
See descriptions for individual calls in download files

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: 452 SVs from 74 studies. See in: genome view

Remapped(Score: Perfect):65,384,386-65,495,410

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683362	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	65,384,386	65,495,410
nsv4683362	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	66,094,279	66,205,303

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16212573	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001033542.3, VCV000833083.3
nssv16214133	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001032669.5, VCV000832154.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16212573	Remapped	Perfect	NC_000006.12:g.(?_ 65384386)_(6549541 0_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	65,384,386	65,495,410
nssv16214133	Remapped	Perfect	NC_000006.12:g.(?_ 65384386)_(6549541 0_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	65,384,386	65,495,410
nssv16212573	Submitted genomic		NC_000006.11:g.(?_ 66094279)_(6620530 3_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	66,094,279	66,205,303
nssv16214133	Submitted genomic		NC_000006.11:g.(?_ 66094279)_(6620530 3_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	66,094,279	66,205,303

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
nssv16212573	GRCh37: NC_000006.11:g.(?_66094279)_(66205303_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001033542.3, VCV000833083.3
nssv16214133	GRCh37: NC_000006.11:g.(?_66094279)_(66205303_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001032669.5, VCV000832154.5

No genotype data were submitted for this variant

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