A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2239364



Internal ID17407872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:53583461..53596417hg38UCSC Ensembl
Innerchr20:52200000..52212956hg19UCSC Ensembl
Innerchr20:51633407..51646363hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3812957
hg1912957
hg1812957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv965885
Supporting Variants
SamplesHGDP00521
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2239364
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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