A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006464



Internal ID19095681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87259942..87652179hg38UCSC Ensembl
Innerchr2:87487065..87951698hg19UCSC Ensembl
Innerchr2:87340576..87732813hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38392238
hg19464634
hg18392238
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3900n100
Supporting Variantsnssv3582412, nssv3582413, nssv3728782
Samples
Known GenesLINC00152, MIR4435-1, MIR4435-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006464
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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