A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1915548



Internal ID17814052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9634743..9643738hg38UCSC Ensembl
Innerchr12:9787339..9796334hg19UCSC Ensembl
Innerchr12:9678606..9687601hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg388996
hg198996
hg188996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983280
Supporting Variants
SamplesHGDP00927
Known GenesLOC374443
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)nssv1915548
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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