A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001495



Internal ID18744026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74598036..75093218hg38UCSC Ensembl
Innerchr2:74825163..75320345hg19UCSC Ensembl
Innerchr2:74678671..75173853hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38495183
hg19495183
hg18495183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581990
Samples
Known GenesHK2, M1AP, MIR5000, POLE4, SEMA4F, TACR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001495
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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