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dbVar

Database of genomic structural variation

nsv6137701

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:2,698,344

Description:GRCh37/hg19 13q12.2-12.3(chr13:28669064-31367407)x1 AND 13q12.2q12.3 deletion

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: 6919 SVs from 97 studies. See in: genome view

Remapped(Score: Perfect):28,094,927-30,793,270

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6137701	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	28,094,927	30,793,270
nsv6137701	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	28,669,064	31,367,407

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17683437	copy number loss	Multiple	Multiple	See cases	Likely pathogenic	ClinVar	RCV001579311.2, VCV001209857.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17683437	Remapped	Perfect	NC_000013.11:g.(?_ 28094927)_(3079327 0_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	28,094,927	30,793,270
nssv17683437	Submitted genomic		NC_000013.10:g.(?_ 28669064)_(3136740 7_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	28,669,064	31,367,407

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
nssv17683437	GRCh37: NC_000013.10:g.(?_28669064)_(31367407_?)del	copy number loss	unknown	See cases	Likely pathogenic	ClinVar	RCV001579311.2, VCV001209857.2	1

No genotype data were submitted for this variant

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