A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980244



Internal ID18615444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:112116283..112119429hg38UCSC Ensembl
Innerchr4:113037439..113040585hg19UCSC Ensembl
Innerchr4:113256888..113260034hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg383147
hg193147
hg183147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2331557, nssv2331559, nssv2331561, nssv2331552, nssv2331560, nssv2331554, nssv2331556, nssv2331558, nssv2331555, nssv2331553
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)nsv980244
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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