A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968974



Internal ID18604202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:109049816..109052298hg38UCSC Ensembl
Innerchr5:108385517..108387999hg19UCSC Ensembl
Innerchr5:108413416..108415898hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg382483
hg192483
hg182483
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2371440, nssv2371437, nssv2371439, nssv2371433, nssv2371438, nssv2371431, nssv2371436, nssv2371432, nssv2371434, nssv2371435
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFER
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968974
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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