A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1944065



Internal ID17879470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106015548..106019546hg38UCSC Ensembl
Innerchr12:106409326..106413324hg19UCSC Ensembl
Innerchr12:104933456..104937454hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383999
hg193999
hg183999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975528
Supporting Variants
SamplesHGDP01307
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)nssv1944065
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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