A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984361



Internal ID18272862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87856756..87864531hg38UCSC Ensembl
Innerchr16:87890362..87898137hg19UCSC Ensembl
Innerchr16:86447863..86455638hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg387776
hg197776
hg187776
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2068960, nssv2068958, nssv2068959, nssv2068951, nssv2068956, nssv2068952, nssv2068954, nssv2068953, nssv2068955, nssv2068957
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesSLC7A5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984361
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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