A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980763



Internal ID18269277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177260266..177265277hg38UCSC Ensembl
Innerchr5:176687267..176692278hg19UCSC Ensembl
Innerchr5:176619873..176624884hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385012
hg195012
hg185012
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2387667, nssv2387664, nssv2387668, nssv2387666, nssv2387662, nssv2387660, nssv2387663, nssv2387661, nssv2387669, nssv2387665
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesNSD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980763
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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