A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1944726



Internal ID17401448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:110426752..110436265hg38UCSC Ensembl
Innerchr12:110864557..110874070hg19UCSC Ensembl
Innerchr12:109348940..109358453hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg389514
hg199514
hg189514
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976651
Supporting Variants
SamplesHGDP00521
Known GenesARPC3
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)nssv1944726
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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