A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983292



Internal ID18618486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19508896..19509396hg38UCSC Ensembl
Innerchr12:19661830..19662330hg19UCSC Ensembl
Innerchr12:19553097..19553597hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1920326, nssv1920323, nssv1920325, nssv1920329, nssv1920328, nssv1920327, nssv1920321, nssv1920322, nssv1920324, nssv1920320
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAEBP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983292
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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