A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983373



Internal ID18618567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:127624349..127625524hg38UCSC Ensembl
Innerchr12:128108894..128110069hg19UCSC Ensembl
Innerchr12:126674847..126676022hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381176
hg191176
hg181176
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1948064, nssv1948069, nssv1948067, nssv1948063, nssv1948065, nssv1948060, nssv1948061, nssv1948068, nssv1948066, nssv1948062
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983373
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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