A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1940892



Internal ID17828905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93082858..93084422hg38UCSC Ensembl
Innerchr12:93476634..93478198hg19UCSC Ensembl
Innerchr12:92000765..92002329hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381565
hg191565
hg181565
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973101
Supporting Variants
SamplesHGDP00998
Known GenesLOC643339
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)nssv1940892
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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