A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984262



Internal ID18272764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14678216..14774331hg38UCSC Ensembl
Innerchr16:14772073..14868188hg19UCSC Ensembl
Innerchr16:14679574..14775689hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3896116
hg1996116
hg1896116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2044442, nssv2044439, nssv2044444, nssv2044441, nssv2044440, nssv2044448, nssv2044447, nssv2044446, nssv2044445, nssv2044443
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNPIPA2, NPIPA3, PLA2G10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984262
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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