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dbVar

Database of genomic structural variation

nsv6634494

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:18,671

Description:NC_000010.10:g.(90986762_90987956)_(90988156_9
1005432)del AND Wolman disease
Publication(s):Hoffman et al. 2015

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: 95 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):89,227,005-89,245,675

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv6634494	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	89,227,005	89,228,199	89,228,399	89,245,675
nsv6634494	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	90,986,762	90,987,956	90,988,156	91,005,432

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18326561	deletion	Multiple	Multiple	Lysosomal acid lipase deficiency; WOLMAN DISEASE; WOLD	Pathogenic	ClinVar	RCV002308555.1, VCV001723279.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18326561	Remapped	Perfect	NC_000010.11:g.(89 227005_89228199)_( 89228399_89245675) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	89,227,005	89,228,199	89,228,399	89,245,675
nssv18326561	Submitted genomic		NC_000010.10:g.(90 986762_90987956)_( 90988156_91005432) del	GRCh37 (hg19)		NC_000010.10	Chr10	90,986,762	90,987,956	90,988,156	91,005,432

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
nssv18326561	GRCh37: NC_000010.10:g.(90986762_90987956)_(90988156_91005432)del	deletion	germline	Lysosomal acid lipase deficiency; WOLMAN DISEASE; WOLD	Pathogenic	ClinVar	RCV002308555.1, VCV001723279.1

No genotype data were submitted for this variant

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