A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602995



Internal ID16043718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:43002769..43128461hg38UCSC Ensembl
Innerchr6:42970507..43096199hg19UCSC Ensembl
Innerchr6:43078485..43204177hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38125693
hg19125693
hg18125693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10640n54
Supporting Variantsnssv1058419
Samples
Known GenesCUL7, KLC4, KLHDC3, MEA1, MRPL2, PPP2R5D, PTK7, RRP36
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602995
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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