A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980208



Internal ID18268722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:65572497..65574927hg38UCSC Ensembl
Innerchr4:66438215..66440645hg19UCSC Ensembl
Innerchr4:66120810..66123240hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg382431
hg192431
hg182431
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2320804, nssv2320806, nssv2320809, nssv2320808, nssv2320802, nssv2320805, nssv2320803, nssv2320810, nssv2320807, nssv2320811
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesEPHA5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980208
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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