A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612769



Internal ID16400178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143429115..143459926hg38UCSC Ensembl
Innerchr8:144511285..144542096hg19UCSC Ensembl
Innerchr8:144582428..144613239hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3830812
hg1930812
hg1830812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125286
Samples
Known GenesMAFA, ZC3H3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612769
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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