A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1939152



Internal ID17797663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80028865..80029955hg38UCSC Ensembl
Innerchr12:80422645..80423735hg19UCSC Ensembl
Innerchr12:78946776..78947866hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381091
hg191091
hg181091
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973095
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)nssv1939152
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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