A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520871



Internal ID15101478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60845418..61024330hg38UCSC Ensembl
Innerchr5:60141245..60320157hg19UCSC Ensembl
Innerchr5:60177002..60355914hg18UCSC Ensembl
Innerchr5:60177002..60355914hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38178913
hg19178913
hg18178913
hg17178913
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv687059, nssv676645
Samples
Known GenesERCC8, NDUFAF2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520871
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer