A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974826



Internal ID18263349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69357471..69358853hg38UCSC Ensembl
Innerchr16:69391374..69392756hg19UCSC Ensembl
Innerchr16:67948875..67950257hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg381383
hg191383
hg181383
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2065755, nssv2065747, nssv2065752, nssv2065751, nssv2065753, nssv2065754, nssv2065748, nssv2065749, nssv2065750, nssv2065746
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTERF2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974826
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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