A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003355



Internal ID18745887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:2560088..3543298hg38UCSC Ensembl
Innerchr2:2563860..3590888hg19UCSC Ensembl
Innerchr2:2542867..3568763hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38983211
hg191027029
hg181025897
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3571289
Samples
Known GenesADI1, 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)nsv1003355
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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