A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945374



Internal ID18592225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:233287191..233289796hg38UCSC Ensembl
Innerchr1:233422937..233425542hg19UCSC Ensembl
Innerchr1:231489560..231492165hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382606
hg192606
hg182606
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1823592, nssv1823588, nssv1823584, nssv1823589, nssv1823585, nssv1823591, nssv1823583, nssv1823590, nssv1823587, nssv1823586
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCNXL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945374
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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