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dbVar

Database of genomic structural variation

nsv6636431

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:9,791,385

Description:GRCh37/hg19 Xq27.1-28(chrX:139504564-149382013)x2 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: 15375 SVs from 98 studies. See in: genome view

Remapped(Score: Good):140,422,399-150,213,783

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6636431	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	140,422,399	150,213,783
nsv6636431	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	139,504,564	149,382,013

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18329564	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV002472498.1, VCV001807692.1	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18329564	Remapped	Good	NC_000023.11:g.(?_ 140422399)_(150213 783_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	140,422,399	150,213,783
nssv18329564	Submitted genomic		NC_000023.10:g.(?_ 139504564)_(149382 013_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	139,504,564	149,382,013

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
nssv18329564	GRCh37: NC_000023.10:g.(?_139504564)_(149382013_?)dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV002472498.1, VCV001807692.1	2

No genotype data were submitted for this variant

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