A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030344



Internal ID19119563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:20867833..21179665hg38UCSC Ensembl
Innerchr6:20868064..21179896hg19UCSC Ensembl
Innerchr6:20976043..21287875hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38311833
hg19311833
hg18311833
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3749041
Samples
Known GenesCDKAL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030344
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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