A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598314



Internal ID16039037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:61079085..61163213hg38UCSC Ensembl
Innerchr5:60374912..60459040hg19UCSC Ensembl
Innerchr5:60410669..60494797hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3884129
hg1984129
hg1884129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034194
Samples
Known GenesNDUFAF2, SMIM15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598314
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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