A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1939621



Internal ID17810114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:91870962..91871839hg38UCSC Ensembl
Innerchr12:92264738..92265615hg19UCSC Ensembl
Innerchr12:90788869..90789746hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38878
hg19878
hg18878
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973100
Supporting Variants
SamplesHGDP00927
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)nssv1939621
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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