A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2236636



Internal ID17727718
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 StatusS
Merged Variantsnsv965875
Supporting Variants
SamplesHGDP00456
Known GenesCHD6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2236636
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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