A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000249



Internal ID19089466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:52058830..52131118hg38UCSC Ensembl
Innerchr2:52285968..52358256hg19UCSC Ensembl
Innerchr2:52139472..52211760hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3872289
hg1972289
hg1872289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581697
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)nsv1000249
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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