A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997982



Internal ID18810832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86745711..86878741hg38UCSC Ensembl
Innerchr2:86972834..87105864hg19UCSC Ensembl
Innerchr2:86826345..86959375hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38133031
hg19133031
hg18133031
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3728711
Samples
Known GenesANAPC1P1, CD8A, CD8B, RMND5A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997982
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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