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dbVar

Database of genomic structural variation

nsv6634623

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,041,475

Description:NC_000023.11:g.(?_103776506)_(103799000_104817
980)del AND Pelizaeus-Merzbacher disease
Publication(s):Hobson et al. 1999, Raskind et al. 1991

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: 1612 SVs from 72 studies. See in: genome view

Submitted genomic103,776,506-104,817,980

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nsv6634623	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	103,776,506	103,799,000	104,817,980
nsv6634623	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	103,031,434	104,062,660	104,062,660

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18326480	deletion	Multiple	Multiple	PELIZAEUS-MERZBACHER DISEASE; PMD; PLP1-Related Disorders; Pelizaeus-Merzbacher disease; Pelizaeus-Merzbacher disease; Sudanophilic leukodystrophy	Pathogenic	ClinVar	RCV000011827.10, VCV000011078.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nssv18326480	Submitted genomic		NC_000023.11:g.(?_ 103776506)_(103799 000_104817980)del	GRCh38 (hg38)		NC_000023.11	ChrX	103,776,506	103,799,000	104,817,980
nssv18326480	Remapped	Good	NC_000023.10:g.(?_ 103031434)_(104062 660_104062660)del	GRCh37.p13	First Pass	NC_000023.10	ChrX	103,031,434	104,062,660	104,062,660

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
nssv18326480	GRCh38: NC_000023.11:g.(?_103776506)_(103799000_104817980)del	deletion	germline	PELIZAEUS-MERZBACHER DISEASE; PMD; PLP1-Related Disorders; Pelizaeus-Merzbacher disease; Pelizaeus-Merzbacher disease; Sudanophilic leukodystrophy	Pathogenic	ClinVar	RCV000011827.10, VCV000011078.1

No genotype data were submitted for this variant

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