A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1928073



Internal ID17747606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:43659569..43661697hg38UCSC Ensembl
Innerchr12:44053372..44055500hg19UCSC Ensembl
Innerchr12:42339639..42341767hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382129
hg192129
hg182129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975482
Supporting Variants
SamplesHGDP00521
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1928073
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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