A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968949



Internal ID18604177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:74799198..74799981hg38UCSC Ensembl
Innerchr5:74095023..74095806hg19UCSC Ensembl
Innerchr5:74130779..74131562hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38784
hg19784
hg18784
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2364313, nssv2364314, nssv2364312, nssv2364309, nssv2364316, nssv2364315, nssv2364308, nssv2364317, nssv2364310, nssv2364311
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM169A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968949
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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