A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974781



Internal ID18609990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21342724..21360320hg38UCSC Ensembl
Innerchr16:21354045..21371641hg19UCSC Ensembl
Innerchr16:21261546..21279142hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3817597
hg1917597
hg1817597
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2051174, nssv2051175, nssv2051170, nssv2051178, nssv2051173, nssv2051177, nssv2051171, nssv2051172, nssv2051179, nssv2051176
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSNX29P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974781
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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