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dbVar

Database of genomic structural variation

nsv6290511

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:242,265

Description:GRCh37/hg19 Xp21.1(chrX:31681369-31923633)x1 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: 631 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):31,663,252-31,905,516

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6290511	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	31,663,252	31,905,516
nsv6290511	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	31,681,369	31,923,633

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17956784	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001829076.1, VCV001340911.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17956784	Remapped	Perfect	NC_000023.11:g.(?_ 31663252)_(3190551 6_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	31,663,252	31,905,516
nssv17956784	Submitted genomic		NC_000023.10:g.(?_ 31681369)_(3192363 3_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	31,681,369	31,923,633

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
nssv17956784	GRCh37: NC_000023.10:g.(?_31681369)_(31923633_?)del	copy number loss	germline	not provided	Pathogenic	ClinVar	RCV001829076.1, VCV001340911.1	1

No genotype data were submitted for this variant

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