A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518874



Internal ID15446167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:73304745..73331701hg38UCSC Ensembl
Innerchr6:74014468..74041424hg19UCSC Ensembl
Innerchr6:74071189..74098145hg18UCSC Ensembl
Innerchr6:74071189..74098145hg17UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3826957
hg1926957
hg1826957
hg1726957
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696332
Samples
Known GenesC6orf147, KHDC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518874
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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