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dbVar

Database of genomic structural variation

nsv6137763

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:304,575

Description:Single allele 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: 711 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):31,627,663-31,932,237

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6137763	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	31,627,663	31,932,237
nsv6137763	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	31,645,780	31,950,354

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17683521	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001663741.2, VCV001256399.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17683521	Remapped	Perfect	NC_000023.11:g.(?_ 31627663)_(3193223 7_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	31,627,663	31,932,237
nssv17683521	Submitted genomic		NC_000023.10:g.(?_ 31645780)_(3195035 4_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	31,645,780	31,950,354

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
nssv17683521	GRCh37: NC_000023.10:g.(?_31645780)_(31950354_?)del	deletion	unknown	not provided	Pathogenic	ClinVar	RCV001663741.2, VCV001256399.2

No genotype data were submitted for this variant

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