A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977102



Internal ID18612308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2539639..2560935hg38UCSC Ensembl
Innerchr16:2589640..2610936hg19UCSC Ensembl
Innerchr16:2529641..2550937hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3821297
hg1921297
hg1821297
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2039776, nssv2039783, nssv2039782, nssv2039778, nssv2039780, nssv2039781, nssv2039777, nssv2039779, nssv2039784, nssv2039775
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPDPK1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977102
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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