A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974759



Internal ID18263282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14435798..14444298hg38UCSC Ensembl
Innerchr16:14529655..14538155hg19UCSC Ensembl
Innerchr16:14437156..14445656hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg388501
hg198501
hg188501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2043520, nssv2043521, nssv2043525, nssv2043518, nssv2043527, nssv2043519, nssv2043522, nssv2043523, nssv2043526, nssv2043524
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPARN
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974759
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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