A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1933019



Internal ID17812924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56505394..56513075hg38UCSC Ensembl
Innerchr12:56899178..56906859hg19UCSC Ensembl
Innerchr12:55185445..55193126hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg387682
hg197682
hg187682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983333
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)nssv1933019
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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