A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977475



Internal ID18612681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63601528..63603861hg38UCSC Ensembl
Innerchr14:64068246..64070579hg19UCSC Ensembl
Innerchr14:63137999..63140332hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg382334
hg192334
hg182334
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1990054, nssv1990055, nssv1990048, nssv1990057, nssv1990056, nssv1990049, nssv1990053, nssv1990050, nssv1990052, nssv1990051
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesWDR89
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977475
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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