A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600984



Internal ID16041707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:10469593..10528561hg38UCSC Ensembl
Innerchr6:10469826..10528794hg19UCSC Ensembl
Innerchr6:10577812..10636780hg18UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg3858969
hg1958969
hg1858969
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10300n54
Supporting Variantsnssv1153630, nssv1049404, nssv1049407, nssv1049405, nssv1049406, nssv1049409, nssv1049403, nssv1049408
Samples1780862519_A
Known GenesGCNT2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600984
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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