A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984123



Internal ID18619313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20430358..20435745hg38UCSC Ensembl
Innerchr15:20635611..20640998hg19UCSC Ensembl
Innerchr15:18895625..18901012hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg385388
hg195388
hg185388
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2625791, nssv2625797, nssv2625798, nssv2625794, nssv2625790, nssv2625799, nssv2625792, nssv2625795, nssv2625793, nssv2625796
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHERC2P3
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984123
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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