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dbVar

Database of genomic structural variation

nsv6112690

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:155,995,301

Description:GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)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: 234765 SVs from 119 studies. See in: genome view

Remapped(Score: Good):10,001-156,005,301

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6112690	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	10,001	156,005,301
nsv6112690	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	60,000	155,234,966

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17649923	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001537933.4, VCV001180551.4	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17649923	Remapped	Good	NC_000023.11:g.100 01_156005301del	GRCh38.p12	First Pass	NC_000023.11	ChrX	10,001	156,005,301
nssv17649923	Submitted genomic		NC_000023.10:g.600 00_155234966del	GRCh37 (hg19)		NC_000023.10	ChrX	60,000	155,234,966

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
nssv17649923	GRCh37: NC_000023.10:g.60000_155234966del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV001537933.4, VCV001180551.4	1

No genotype data were submitted for this variant

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