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dbVar

Database of genomic structural variation

nsv6636177

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:194,128

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: 599 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):31,774,202-31,968,329

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv6636177	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	31,774,202	31,819,965	31,932,237	31,968,329
nsv6636177	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	31,792,319	31,838,082	31,950,354	31,986,446

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18329038	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV002475200.1, VCV001807243.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18329038	Remapped	Perfect	NC_000023.11:g.(31 774202_31819965)_( 31932237_31968329) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	31,774,202	31,819,965	31,932,237	31,968,329
nssv18329038	Submitted genomic		NC_000023.10:g.(31 792319_31838082)_( 31950354_31986446) del	GRCh37 (hg19)		NC_000023.10	ChrX	31,792,319	31,838,082	31,950,354	31,986,446

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
nssv18329038	GRCh37: NC_000023.10:g.(31792319_31838082)_(31950354_31986446)del	deletion	unknown	not provided	Pathogenic	ClinVar	RCV002475200.1, VCV001807243.1

No genotype data were submitted for this variant

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