A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008732



Internal ID18751263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24907673..25349661hg38UCSC Ensembl
Innerchr2:25130542..25572530hg19UCSC Ensembl
Innerchr2:24984046..25426034hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38441989
hg19441989
hg18441989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3727989
Samples
Known GenesADCY3, DNAJC27, DNAJC27-AS1, DNMT3A, EFR3B, MIR1301, POMC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008732
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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