A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1944826



Internal ID17525476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:110459834..110465115hg38UCSC Ensembl
Innerchr12:110897639..110902920hg19UCSC Ensembl
Innerchr12:109382022..109387303hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg385282
hg195282
hg185282
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973114
Supporting Variants
SamplesHGDP01284
Known GenesGPN3
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)nssv1944826
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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