A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968279



Internal ID18603507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177698152..177733020hg38UCSC Ensembl
Innerchr5:177125153..177160021hg19UCSC Ensembl
Innerchr5:177057759..177092627hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3834869
hg1934869
hg1834869
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2386924, nssv2386919, nssv2386920, nssv2386921, nssv2386922, nssv2386916, nssv2386917, nssv2386915, nssv2386918, nssv2386923
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM153A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968279
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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