A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1941790



Internal ID17830535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101415044..101425186hg38UCSC Ensembl
Innerchr12:101808822..101818964hg19UCSC Ensembl
Innerchr12:100332953..100343095hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3810143
hg1910143
hg1810143
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973108
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)nssv1941790
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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