A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1934005



Internal ID17793349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59019497..59020902hg38UCSC Ensembl
Innerchr12:59413278..59414683hg19UCSC Ensembl
Innerchr12:57699545..57700950hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381406
hg191406
hg181406
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973079
Supporting Variants
SamplesHGDP00778
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)nssv1934005
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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