A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612728



Internal ID16053451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143184697..143253125hg38UCSC Ensembl
Innerchr8:144266114..144335295hg19UCSC Ensembl
Innerchr8:144337489..144406670hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3868429
hg1969182
hg1869182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156657
SamplesHGDP01215
Known GenesGPIHBP1, ZFP41
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612728
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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