A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979683



Internal ID18614884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42107756..42108879hg38UCSC Ensembl
Innerchr22:42503760..42504883hg19UCSC Ensembl
Innerchr22:40833706..40834829hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381124
hg191124
hg181124
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2269563, nssv2269570, nssv2269567, nssv2269566, nssv2269565, nssv2269568, nssv2269561, nssv2269564, nssv2269562, nssv2269569
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNDUFA6-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979683
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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