A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980260



Internal ID18615460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:139113982..139115181hg38UCSC Ensembl
Innerchr4:140035136..140036335hg19UCSC Ensembl
Innerchr4:140254586..140255785hg18UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg381200
hg191200
hg181200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2336432, nssv2336433, nssv2336429, nssv2336428, nssv2336431, nssv2336426, nssv2336434, nssv2336427, nssv2336425, nssv2336430
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesELF2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980260
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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