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dbVar

Database of genomic structural variation

nsv3870570

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:3,978,010

Description:GRCh37/hg19 6p22.1-21.32(chr6:28130359-32108367)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: 19207 SVs from 134 studies. See in: genome view

Remapped(Score: Perfect):28,162,581-32,140,590

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3870570	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	28,162,581	32,140,590
nsv3870570	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	28,130,359	32,108,367

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15168347	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000745592.2, VCV000608956.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15168347	Remapped	Perfect	NC_000006.12:g.(?_ 28162581)_(3214059 0_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	28,162,581	32,140,590
nssv15168347	Submitted genomic		NC_000006.11:g.(?_ 28130359)_(3210836 7_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	28,130,359	32,108,367

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
nssv15168347	GRCh37: NC_000006.11:g.(?_28130359)_(32108367_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV000745592.2, VCV000608956.2	3

No genotype data were submitted for this variant

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