A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979415



Internal ID18614618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:19822572..19824802hg38UCSC Ensembl
Innerchr20:19803216..19805446hg19UCSC Ensembl
Innerchr20:19751216..19753446hg18UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg382231
hg192231
hg182231
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2230834, nssv2230838, nssv2230831, nssv2230839, nssv2230830, nssv2230835, nssv2230836, nssv2230837, nssv2230832, nssv2230833
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979415
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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