A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978994



Internal ID18267511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:37817374..37818374hg38UCSC Ensembl
Innerchr2:38044517..38045517hg19UCSC Ensembl
Innerchr2:37898021..37899021hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2169364, nssv2169365, nssv2169368, nssv2169371, nssv2169372, nssv2169369, nssv2169370, nssv2169363, nssv2169367, nssv2169366
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)nsv978994
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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