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dbVar

Database of genomic structural variation

nsv7093731

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:1,968,027

Description:NC_000010.10:g.(?_76349020)_(78317046_?)del AND Genitopatellar syndrome
Publication(s):Campeau et al. 2012

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: 4248 SVs from 102 studies. See in: genome view

Remapped(Score: Perfect):74,589,262-76,557,288

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093731	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	74,589,262	76,557,288
nsv7093731	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	76,349,020	78,317,046

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790737	deletion	Multiple	Multiple	GENITOPATELLAR SYNDROME; GTPTS; Genitopatellar syndrome; Genitopatellar syndrome; KAT6B-Related Disorders	Pathogenic	ClinVar	RCV003116587.2, VCV002425795.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790737	Remapped	Perfect	NC_000010.11:g.(?_ 74589262)_(7655728 8_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	74,589,262	76,557,288
nssv18790737	Submitted genomic		NC_000010.10:g.(?_ 76349020)_(7831704 6_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	76,349,020	78,317,046

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
nssv18790737	GRCh37: NC_000010.10:g.(?_76349020)_(78317046_?)del	deletion	germline	GENITOPATELLAR SYNDROME; GTPTS; Genitopatellar syndrome; Genitopatellar syndrome; KAT6B-Related Disorders	Pathogenic	ClinVar	RCV003116587.2, VCV002425795.3

No genotype data were submitted for this variant

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