A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1938048



Internal ID17828765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:68035395..68037778hg38UCSC Ensembl
Innerchr12:68429175..68431558hg19UCSC Ensembl
Innerchr12:66715442..66717825hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg382384
hg192384
hg182384
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983344
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)nssv1938048
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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