A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2233992



Internal ID17729666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:30335462..30417700hg38UCSC Ensembl
Innerchr20:29570138..29652376hg19UCSC Ensembl
Innerchr20:28183799..28266037hg18UCSC Ensembl
Cytoband20q11.1
Allele length
AssemblyAllele length
hg3882239
hg1982239
hg1882239
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965870
Supporting Variants
SamplesHGDP00456
Known GenesFRG1B, MLLT10P1
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)nssv2233992
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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