A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612777



Internal ID16053500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143538914..143632493hg38UCSC Ensembl
Innerchr8:144621084..144714663hg19UCSC Ensembl
Innerchr8:144692227..144785806hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3893580
hg1993580
hg1893580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125291
Samples
Known GenesEEF1D, GSDMD, MROH6, NAPRT1, PYCRL, TIGD5, TSTA3, ZC3H3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612777
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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