A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967721



Internal ID18602949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3911894..4128149hg38UCSC Ensembl
Innerchr4:3913621..4129876hg19UCSC Ensembl
Innerchr4:3963515..4180777hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38216256
hg19216256
hg18217263
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2311123, nssv2311122, nssv2311121, nssv2311124, nssv2311118, nssv2311120, nssv2311125, nssv2311117, nssv2311126, nssv2311119
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM86EP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967721
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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