A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977999



Internal ID18266518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:71928060..71929060hg38UCSC Ensembl
Innerchr16:71961963..71962963hg19UCSC Ensembl
Innerchr16:70519464..70520464hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2068053, nssv2068051, nssv2068049, nssv2068050, nssv2068054, nssv2068055, nssv2068052, nssv2068058, nssv2068056, nssv2068057
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesIST1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977999
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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