A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983375



Internal ID18618569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130874341..130876201hg38UCSC Ensembl
Innerchr12:131358886..131360746hg19UCSC Ensembl
Innerchr12:129924839..129926699hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381861
hg191861
hg181861
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1947690, nssv1947691, nssv1947693, nssv1947686, nssv1947688, nssv1947687, nssv1947692, nssv1947684, nssv1947685, nssv1947689
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRAN
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983375
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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