A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013257



Internal ID18755788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:3377128..3733306hg38UCSC Ensembl
Innerchr2:3380899..3780896hg19UCSC Ensembl
Innerchr2:3359906..3758771hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38356179
hg19399998
hg18398866
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3702n100
Supporting Variantsnssv3571295
Samples
Known GenesADI1, ALLC, COLEC11, 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)nsv1013257
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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