A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006293



Internal ID18748824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239566358..239913428hg38UCSC Ensembl
Innerchr2:240488052..240852845hg19UCSC Ensembl
Innerchr2:240152989..240501518hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38347071
hg19364794
hg18348530
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586978
Samples
Known GenesLOC150935
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006293
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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