A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1058419



Internal ID15564919
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 StatusS
Merged Variantsnsv602995
Supporting Variants
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)nssv1058419
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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