A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965875



Internal ID18601105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:41546945..41548310hg38UCSC Ensembl
Innerchr20:40175584..40176949hg19UCSC Ensembl
Innerchr20:39608998..39610363hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg381366
hg191366
hg181366
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2236638, nssv2236636, nssv2236640, nssv2236637, nssv2236633, nssv2236632, nssv2236635, nssv2236631, nssv2236639, nssv2236634
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCHD6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965875
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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