A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013040



Internal ID19102258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:89896137..90205353hg38UCSC Ensembl
Innerchr2:89934947..90244220hg19UCSC Ensembl
Innerchr2:89571989..89881525hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38309217
hg19309274
hg18309537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3975n100
Supporting Variantsnssv3579812, nssv3579813, nssv3579814
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)nsv1013040
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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