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dbVar

Database of genomic structural variation

nsv4684059

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:324

Description:GRCh37/hg19 6p21.33(chr6:32020447-32020770)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: 193 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):32,052,670-32,052,993

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4684059	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	32,052,670	32,052,993
nsv4684059	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	32,020,447	32,020,770

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16215049	copy number loss	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV001091300.10, VCV000871383.15	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16215049	Remapped	Perfect	NC_000006.12:g.(?_ 32052670)_(3205299 3_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	32,052,670	32,052,993
nssv16215049	Submitted genomic		NC_000006.11:g.(?_ 32020447)_(3202077 0_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	32,020,447	32,020,770

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
nssv16215049	GRCh37: NC_000006.11:g.(?_32020447)_(32020770_?)del	copy number loss	germline	not provided	Likely pathogenic	ClinVar	RCV001091300.10, VCV000871383.15	1

No genotype data were submitted for this variant

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