A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980227



Internal ID18615427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:82576806..82581355hg38UCSC Ensembl
Innerchr4:83497959..83502508hg19UCSC Ensembl
Innerchr4:83716983..83721532hg18UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg384550
hg194550
hg184550
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2325732, nssv2325729, nssv2325733, nssv2325738, nssv2325734, nssv2325735, nssv2325730, nssv2325737, nssv2325736, nssv2325731
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980227
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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