A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002666



Internal ID18745198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197183292..197300397hg38UCSC Ensembl
Innerchr2:198048016..198165121hg19UCSC Ensembl
Innerchr2:197756261..197873366hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38117106
hg19117106
hg18117106
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583987
Samples
Known GenesANKRD44
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002666
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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