A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976342



Internal ID18611548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:55002000..55007905hg38UCSC Ensembl
Innerchr14:55468718..55474623hg19UCSC Ensembl
Innerchr14:54538468..54544373hg18UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg385906
hg195906
hg185906
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1988117, nssv1988123, nssv1988122, nssv1988121, nssv1988118, nssv1988125, nssv1988126, nssv1988119, nssv1988124, nssv1988120
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesWDHD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976342
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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