A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046992



Internal ID18789523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35058033..35255021hg38UCSC Ensembl
Innerchr14:35527239..35724227hg19UCSC Ensembl
Innerchr14:34596990..34793978hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38196989
hg19196989
hg18196989
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1868n100
Supporting Variantsnssv3712279, nssv3712277, nssv3712278
Samples
Known GenesFAM177A1, KIAA0391, PPP2R3C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046992
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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