A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006595



Internal ID18749126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197283052..197357918hg38UCSC Ensembl
Innerchr2:198147776..198222642hg19UCSC Ensembl
Innerchr2:197856021..197930887hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3874867
hg1974867
hg1874867
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4149n100
Supporting Variantsnssv3583989
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)nsv1006595
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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