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dbVar

Database of genomic structural variation

nsv4682659

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:7,644

Description:NC_000023.11:g.(?_153736102)_(153743745_?)del AND Adrenoleukodystrophy
Publication(s):Krasemann et al. 2011, Raymond et al. 1999

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: 89 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):153,736,102-153,743,745

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682659	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	153,736,102	153,743,745
nsv4682659	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	153,001,556	153,009,199

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213167	deletion	Multiple	Multiple	ADRENOLEUKODYSTROPHY; ALD; Adrenoleukodystrophy; X-Linked Adrenoleukodystrophy	Pathogenic	ClinVar	RCV001031260.1, VCV000830642.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213167	Remapped	Perfect	NC_000023.11:g.(?_ 153736102)_(153743 745_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	153,736,102	153,743,745
nssv16213167	Submitted genomic		NC_000023.10:g.(?_ 153001556)_(153009 199_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	153,001,556	153,009,199

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
nssv16213167	GRCh37: NC_000023.10:g.(?_153001556)_(153009199_?)del	deletion	germline	ADRENOLEUKODYSTROPHY; ALD; Adrenoleukodystrophy; X-Linked Adrenoleukodystrophy	Pathogenic	ClinVar	RCV001031260.1, VCV000830642.1

No genotype data were submitted for this variant

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