A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598313



Internal ID16039036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60951988..61079085hg38UCSC Ensembl
Innerchr5:60247815..60374912hg19UCSC Ensembl
Innerchr5:60283572..60410669hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38127098
hg19127098
hg18127098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034193
Samples
Known GenesNDUFAF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598313
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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