A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984072



Internal ID18619262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:54320523..54322141hg38UCSC Ensembl
Innerchr15:54612721..54614339hg19UCSC Ensembl
Innerchr15:52400013..52401631hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg381619
hg191619
hg181619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2024615, nssv2024616, nssv2024614, nssv2024611, nssv2024618, nssv2024612, nssv2024619, nssv2024613, nssv2024617, nssv2024610
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesUNC13C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984072
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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