A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002481



Internal ID19091698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:76692479..76730365hg38UCSC Ensembl
Innerchr2:76919605..76957491hg19UCSC Ensembl
Innerchr2:76773113..76810999hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3837887
hg1937887
hg1837887
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3876n100
Supporting Variantsnssv3582028, nssv3582030, nssv3582029
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002481
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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