A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014218



Internal ID18756751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:60754968..60868884hg38UCSC Ensembl
Innerchr2:60982103..61096019hg19UCSC Ensembl
Innerchr2:60835607..60949523hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38113917
hg19113917
hg18113917
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3859n100
Supporting Variantsnssv3577244
Samples
Known GenesFLJ16341, PAPOLG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014218
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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