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dbVar

Database of genomic structural variation

nsv4682463

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:80,893

Description:NC_000006.11:g.(?_162394324)_(162475216_?)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: 693 SVs from 75 studies. See in: genome view

Remapped(Score: Perfect):161,973,292-162,054,184

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682463	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	161,973,292	162,054,184
nsv4682463	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	162,394,324	162,475,216

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172526	duplication	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001381351.5, VCV001069483.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172526	Remapped	Perfect	NC_000006.12:g.(?_ 161973292)_(162054 184_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	161,973,292	162,054,184
nssv17172526	Submitted genomic		NC_000006.11:g.(?_ 162394324)_(162475 216_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	162,394,324	162,475,216

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
nssv17172526	GRCh37: NC_000006.11:g.(?_162394324)_(162475216_?)dup	duplication	germline	not provided	Pathogenic	ClinVar	RCV001381351.5, VCV001069483.5

No genotype data were submitted for this variant

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