A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044817



Internal ID18787348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34432072..34538731hg38UCSC Ensembl
Innerchr15:34724273..34830932hg19UCSC Ensembl
Innerchr15:32511565..32618224hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38106660
hg19106660
hg18106660
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2562n100
Supporting Variantsnssv3550672, nssv3550671, nssv3550668, nssv3721943, nssv3550670, nssv3550675, nssv3550673, nssv3550669, nssv3550674
Samples
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044817
Frequency
Sample Size29084
Observed Gain2
Observed Loss7
Observed Complex0
Frequencyn/a


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