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dbVar

Database of genomic structural variation

nsv7098417

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,932,478

Description:
See descriptions for individual calls in download files
Publication(s):Chandra et al. 2004

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: 3915 SVs from 93 studies. See in: genome view

Remapped(Score: Good):46,758,685-48,691,162

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098417	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	46,758,685	48,691,162
nsv7098417	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	46,618,120	48,549,553

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787299	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV003122288.1, VCV002422978.3
nssv18789087	deletion	Multiple	Multiple	Hereditary thrombocytopenia with normal platelets; NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX; See individual phenotypes in OMIM allelic variants; Severe congenital neutropenia X-linked; THROMBOCYTOPENIA 1; THC1; Thrombocytopenia, X-linked; WAS-Related Disorders; WISKOTT-ALDRICH SYNDROME; WAS; Wiskott-Aldrich syndrome; Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia	Pathogenic	ClinVar	RCV003111118.2, VCV002422978.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787299	Remapped	Good	NC_000023.11:g.(?_ 46758685)_(4869116 2_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	46,758,685	48,691,162
nssv18789087	Remapped	Good	NC_000023.11:g.(?_ 46758685)_(4869116 2_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	46,758,685	48,691,162
nssv18787299	Submitted genomic		NC_000023.10:g.(?_ 46618120)_(4854955 3_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	46,618,120	48,549,553
nssv18789087	Submitted genomic		NC_000023.10:g.(?_ 46618120)_(4854955 3_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	46,618,120	48,549,553

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
nssv18787299	GRCh37: NC_000023.10:g.(?_46618120)_(48549553_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV003122288.1, VCV002422978.3
nssv18789087	GRCh37: NC_000023.10:g.(?_46618120)_(48549553_?)del	deletion	germline	Hereditary thrombocytopenia with normal platelets; NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX; See individual phenotypes in OMIM allelic variants; Severe congenital neutropenia X-linked; THROMBOCYTOPENIA 1; THC1; Thrombocytopenia, X-linked; WAS-Related Disorders; WISKOTT-ALDRICH SYNDROME; WAS; Wiskott-Aldrich syndrome; Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia	Pathogenic	ClinVar	RCV003111118.2, VCV002422978.3

No genotype data were submitted for this variant

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