A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012391



Internal ID19101608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91426526..91603118hg38UCSC Ensembl
Innerchr2:91618895..91791144hg19UCSC Ensembl
Innerchr2:90982622..91154871hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38176593
hg19172250
hg18172250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3990n100
Supporting Variantsnssv3729110, nssv3579411
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)nsv1012391
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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