A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963219



Internal ID18251774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:31865758..31868548hg38UCSC Ensembl
Innerchr2:32090827..32093617hg19UCSC Ensembl
Innerchr2:31944331..31947121hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382791
hg192791
hg182791
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2167345, nssv2167348, nssv2167340, nssv2167344, nssv2167349, nssv2167343, nssv2167341, nssv2167346, nssv2167342, nssv2167347
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMEMO1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963219
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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