A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973131



Internal ID18261660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122364118..122366910hg38UCSC Ensembl
Innerchr12:122848665..122851457hg19UCSC Ensembl
Innerchr12:121414618..121417410hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382793
hg192793
hg182793
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1947045, nssv1947040, nssv1947044, nssv1947041, nssv1947047, nssv1947042, nssv1947039, nssv1947048, nssv1947043, nssv1947046
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCLIP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973131
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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