A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968246



Internal ID18603474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:136428892..136430132hg38UCSC Ensembl
Innerchr5:135764581..135765821hg19UCSC Ensembl
Innerchr5:135792480..135793720hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381241
hg191241
hg181241
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2378379, nssv2378378, nssv2378377, nssv2378375, nssv2378381, nssv2378384, nssv2378383, nssv2378380, nssv2378376, nssv2378382
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968246
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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