A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1125491



Internal ID15631991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143566472..143611669hg38UCSC Ensembl
Innerchr8:144648642..144693839hg19UCSC Ensembl
Innerchr8:144719785..144764982hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3845198
hg1945198
hg1845198
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv612813
Supporting Variants
Samples
Known GenesEEF1D, MROH6, NAPRT1, PYCRL, TIGD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1125491
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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