A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612793



Internal ID16053516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143552167..143630578hg38UCSC Ensembl
Innerchr8:144634337..144712748hg19UCSC Ensembl
Innerchr8:144705480..144783891hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3878412
hg1978412
hg1878412
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125441
Samples
Known GenesEEF1D, GSDMD, MROH6, NAPRT1, PYCRL, TIGD5, TSTA3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612793
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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