A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980246



Internal ID18615446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:112456077..112457692hg38UCSC Ensembl
Innerchr4:113377233..113378848hg19UCSC Ensembl
Innerchr4:113596682..113598297hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg381616
hg191616
hg181616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2332561, nssv2332555, nssv2332564, nssv2332560, nssv2332559, nssv2332558, nssv2332562, nssv2332556, nssv2332557, nssv2332563
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)nsv980246
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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