A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967743



Internal ID18602971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49016379..49016969hg38UCSC Ensembl
Innerchr4:49018396..49018986hg19UCSC Ensembl
Innerchr4:48713153..48713743hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38591
hg19591
hg18591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2318482, nssv2318476, nssv2318479, nssv2318475, nssv2318480, nssv2318477, nssv2318474, nssv2318481, nssv2318478, nssv2318483
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCWH43
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967743
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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