A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979442



Internal ID18267959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:51790944..51792166hg38UCSC Ensembl
Innerchr20:50407483..50408705hg19UCSC Ensembl
Innerchr20:49840890..49842112hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381223
hg191223
hg181223
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2240480, nssv2240482, nssv2240485, nssv2240481, nssv2240483, nssv2240484, nssv2240477, nssv2240476, nssv2240479, nssv2240478
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSALL4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979442
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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