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dbVar

Database of genomic structural variation

nsv4681839

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:88

Description:NC_000023.11:g.(?_134500010)_(134500097_?)del AND multiple conditions
Publication(s):Nyhan et al. 2000

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: 71 SVs from 15 studies. See in: genome view

Remapped(Score: Perfect):134,500,010-134,500,097

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681839	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	134,500,010	134,500,097
nsv4681839	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	133,634,040	133,634,127

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213236	deletion	Multiple	Multiple	HPRT1 Disorders; HYPERURICEMIA, HPRT-RELATED; HRH; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; LESCH-NYHAN SYNDROME; LNS; Lesch-Nyhan syndrome; Lesch-Nyhan syndrome; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Pathogenic	ClinVar	RCV001031357.6, VCV000830749.7

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213236	Remapped	Perfect	NC_000023.11:g.(?_ 134500010)_(134500 097_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	134,500,010	134,500,097
nssv16213236	Submitted genomic		NC_000023.10:g.(?_ 133634040)_(133634 127_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	133,634,040	133,634,127

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
nssv16213236	GRCh37: NC_000023.10:g.(?_133634040)_(133634127_?)del	deletion	germline	HPRT1 Disorders; HYPERURICEMIA, HPRT-RELATED; HRH; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; LESCH-NYHAN SYNDROME; LNS; Lesch-Nyhan syndrome; Lesch-Nyhan syndrome; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Pathogenic	ClinVar	RCV001031357.6, VCV000830749.7

No genotype data were submitted for this variant

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