A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007248



Internal ID18749779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235367709..235546219hg38UCSC Ensembl
Innerchr1:235531024..235709519hg19UCSC Ensembl
Innerchr1:233597647..233776142hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38178511
hg19178496
hg18178496
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv586n100
Supporting Variantsnssv3492498
Samples
Known GenesB3GALNT2, TBCE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007248
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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