A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2231260



Internal ID17438910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:23634168..23641209hg38UCSC Ensembl
Innerchr20:23614805..23621846hg19UCSC Ensembl
Innerchr20:23562805..23569846hg18UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg387042
hg197042
hg187042
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964381
Supporting Variants
SamplesHGDP00665
Known GenesCST3
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)nssv2231260
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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