A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1946601



Internal ID17499088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120245338..120247765hg38UCSC Ensembl
Innerchr12:120683141..120685568hg19UCSC Ensembl
Innerchr12:119167524..119169951hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg382428
hg192428
hg182428
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976654
Supporting Variants
SamplesHGDP01029
Known GenesPXN
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)nssv1946601
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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