A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000020



Internal ID18742551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24709475..24909903hg38UCSC Ensembl
Innerchr2:24932344..25132772hg19UCSC Ensembl
Innerchr2:24785848..24986276hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38200429
hg19200429
hg18200429
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3579129
Samples
Known GenesADCY3, CENPO, NCOA1, PTRHD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000020
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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