A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977980



Internal ID18613185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55754457..55772240hg38UCSC Ensembl
Innerchr16:55788369..55806152hg19UCSC Ensembl
Innerchr16:54345870..54363653hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3817784
hg1917784
hg1817784
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2062074, nssv2062079, nssv2062083, nssv2062078, nssv2062082, nssv2062076, nssv2062080, nssv2062075, nssv2062081, nssv2062077
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCES1P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977980
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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