A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980764



Internal ID18269278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177304568..177306141hg38UCSC Ensembl
Innerchr5:176731569..176733142hg19UCSC Ensembl
Innerchr5:176664175..176665748hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381574
hg191574
hg181574
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2387760, nssv2387762, nssv2387763, nssv2387761, nssv2387766, nssv2387759, nssv2387764, nssv2387757, nssv2387758, nssv2387765
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesMXD3, PRELID1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980764
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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