A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980247



Internal ID18615447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:112880891..112882257hg38UCSC Ensembl
Innerchr4:113802047..113803413hg19UCSC Ensembl
Innerchr4:114021496..114022862hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg381367
hg191367
hg181367
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2331995, nssv2331991, nssv2331992, nssv2331990, nssv2331994, nssv2331993, nssv2332788, nssv2332789, nssv2331988, nssv2331989
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANK2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980247
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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