A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1926231



Internal ID17735518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42636793..42637778hg38UCSC Ensembl
Innerchr12:43030595..43031580hg19UCSC Ensembl
Innerchr12:41316862..41317847hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38986
hg19986
hg18986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983315
Supporting Variants
SamplesHGDP00456
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)nssv1926231
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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