A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3571292



Internal ID18522887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:3361936..3722677hg38UCSC Ensembl
Innerchr2:3365707..3770267hg19UCSC Ensembl
Innerchr2:3344714..3748142hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38360742
hg19404561
hg18403429
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006682
Supporting Variants
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)nssv3571292
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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