A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974342



Internal ID18609553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:59180294..59184117hg38UCSC Ensembl
Innerchr14:59647012..59650835hg19UCSC Ensembl
Innerchr14:58716765..58720588hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg383824
hg193824
hg183824
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1986971, nssv1986974, nssv1986975, nssv1986973, nssv1986977, nssv1986978, nssv1986979, nssv1986970, nssv1986972, nssv1986976
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974342
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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