A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969026



Internal ID18257568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178039501..178040633hg38UCSC Ensembl
Innerchr5:177466502..177467634hg19UCSC Ensembl
Innerchr5:177399108..177400240hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381133
hg191133
hg181133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2390541, nssv2390544, nssv2390543, nssv2390540, nssv2390545, nssv2390539, nssv2390542, nssv2390546, nssv2390547, nssv2390538
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesFAM153C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969026
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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