A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1125288



Internal ID15631788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143489261..143606976hg38UCSC Ensembl
Innerchr8:144571431..144689146hg19UCSC Ensembl
Innerchr8:144642574..144760289hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38117716
hg19117716
hg18117716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv612774
Supporting Variants
Samples
Known GenesEEF1D, GSDMD, MROH6, NAPRT1, PYCRL, TIGD5, ZC3H3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1125288
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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