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dbVar

Database of genomic structural variation

nsv6636647

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:721,381

Description:GRCh37/hg19 6p12.1(chr6:54926500-55647880)x3 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: 2001 SVs from 80 studies. See in: genome view

Remapped(Score: Perfect):55,061,702-55,783,082

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6636647	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	55,061,702	55,783,082
nsv6636647	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	54,926,500	55,647,880

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18329847	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV002473579.1, VCV001808262.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18329847	Remapped	Perfect	NC_000006.12:g.(?_ 55061702)_(5578308 2_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,061,702	55,783,082
nssv18329847	Submitted genomic		NC_000006.11:g.(?_ 54926500)_(5564788 0_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	54,926,500	55,647,880

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
nssv18329847	GRCh37: NC_000006.11:g.(?_54926500)_(55647880_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV002473579.1, VCV001808262.1	3

No genotype data were submitted for this variant

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