A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1940672



Internal ID17762451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:96898991..96901331hg38UCSC Ensembl
Innerchr12:97292769..97295109hg19UCSC Ensembl
Innerchr12:95816900..95819240hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382341
hg192341
hg182341
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983356
Supporting Variants
SamplesHGDP00542
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)nssv1940672
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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