A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999608



Internal ID18812458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64115335..64290325hg38UCSC Ensembl
Innerchr2:64342469..64517459hg19UCSC Ensembl
Innerchr2:64195973..64370963hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38174991
hg19174991
hg18174991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3861n100
Supporting Variantsnssv3577266
Samples
Known GenesLINC00309, PELI1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999608
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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