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dbVar

Database of genomic structural variation

nsv6313184

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:156,744

Description:GRCh37/hg19 Xp21.1(chrX:31814056-31970799) AND not specified

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: 541 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):31,795,939-31,952,682

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6313184	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	31,795,939	31,952,682
nsv6313184	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	31,814,056	31,970,799

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17969338	copy number loss	Multiple	Multiple	not specified	Pathogenic	ClinVar	RCV002052802.3, VCV001526783.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17969338	Remapped	Perfect	NC_000023.11:g.(?_ 31795939)_(3195268 2_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	31,795,939	31,952,682
nssv17969338	Submitted genomic		NC_000023.10:g.(?_ 31814056)_(3197079 9_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	31,814,056	31,970,799

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
nssv17969338	GRCh37: NC_000023.10:g.(?_31814056)_(31970799_?)del	copy number loss	germline	not specified	Pathogenic	ClinVar	RCV002052802.3, VCV001526783.3

No genotype data were submitted for this variant

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