A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011656



Internal ID18754190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:2931099..3576389hg38UCSC Ensembl
Innerchr2:2934871..3623979hg19UCSC Ensembl
Innerchr2:2913878..3601854hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38645291
hg19689109
hg18687977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3571290
Samples
Known GenesADI1, RNASEH1, RNASEH1-AS1, RPS7, TRAPPC12, TSSC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011656
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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