A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983290



Internal ID18618484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18692773..18695153hg38UCSC Ensembl
Innerchr12:18845707..18848087hg19UCSC Ensembl
Innerchr12:18736974..18739354hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg382381
hg192381
hg182381
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1919237, nssv1919246, nssv1919243, nssv1919241, nssv1919238, nssv1919242, nssv1919239, nssv1919245, nssv1919244, nssv1919240
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPLCZ1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983290
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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