A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977466



Internal ID18265986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:49894053..49897186hg38UCSC Ensembl
Innerchr14:50360771..50363904hg19UCSC Ensembl
Innerchr14:49430521..49433654hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg383134
hg193134
hg183134
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1985342, nssv1985346, nssv1985349, nssv1985344, nssv1985347, nssv1985348, nssv1985343, nssv1985345, nssv1985350, nssv1985341
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesARF6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977466
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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