A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1934992



Internal ID17828163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59053081..59055701hg38UCSC Ensembl
Innerchr12:59446862..59449482hg19UCSC Ensembl
Innerchr12:57733129..57735749hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg382621
hg192621
hg182621
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976631
Supporting Variants
SamplesHGDP00998
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)nssv1934992
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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