A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978979



Internal ID18614182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:11350412..11353029hg38UCSC Ensembl
Innerchr2:11490538..11493155hg19UCSC Ensembl
Innerchr2:11407989..11410606hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg382618
hg192618
hg182618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2162611, nssv2162606, nssv2162608, nssv2162607, nssv2162609, nssv2162614, nssv2162610, nssv2162612, nssv2162613, nssv2162615
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)nsv978979
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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