A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964391



Internal ID18252943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:34089221..34090221hg38UCSC Ensembl
Innerchr20:32677027..32678027hg19UCSC Ensembl
Innerchr20:32140688..32141688hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2235513, nssv2235518, nssv2235517, nssv2235516, nssv2235519, nssv2235521, nssv2235512, nssv2235520, nssv2235515, nssv2235514
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEIF2S2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964391
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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