A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612389



Internal ID16399798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675295..136839412hg38UCSC Ensembl
Innerchr8:137687538..137851655hg19UCSC Ensembl
Innerchr8:137756720..137920837hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38164118
hg19164118
hg18164118
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12343n54
Supporting Variantsnssv1156159, nssv1156162, nssv1156166, nssv1156161, nssv1156167, nssv1156165, nssv1122256, nssv1156158, nssv1156164, nssv1156163, nssv1122255, nssv1156160
SamplesHGDP00003, HGDP00141, HGDP00072, HGDP00076, HGDP00518, HGDP01075, HGDP00037, HGDP00667, HGDP00330, HGDP00338
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612389
Frequency
Sample Size17421
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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