A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011177



Internal ID18753711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73940216..74012778hg38UCSC Ensembl
Innerchr2:74167343..74239905hg19UCSC Ensembl
Innerchr2:74020851..74093413hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3872563
hg1972563
hg1872563
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581989
Samples
Known GenesDGUOK, DGUOK-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011177
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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