A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979411



Internal ID18267928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1913995..1916158hg38UCSC Ensembl
Innerchr20:1894641..1896804hg19UCSC Ensembl
Innerchr20:1842641..1844804hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg382164
hg192164
hg182164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2228638, nssv2228637, nssv2228636, nssv2228641, nssv2228640, nssv2228639, nssv2228634, nssv2228633, nssv2228632, nssv2228635
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSIRPA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979411
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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