A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv615242



Internal ID16055965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114284841..114341693hg38UCSC Ensembl
Innerchr9:117047121..117103973hg19UCSC Ensembl
Innerchr9:116086942..116143794hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3856853
hg1956853
hg1856853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12860n54
Supporting Variantsnssv1141270, nssv1176479, nssv1176478, nssv1176482, nssv1141271, nssv1176477, nssv1176481, nssv1176480
SamplesHGDP00578, HGDP00617, HGDP00582, HGDP00567, HGDP00584, HGDP00572
Known GenesAKNA, COL27A1, ORM1, ORM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv615242
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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