A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2232536



Internal ID17887878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:21742826..21756255hg38UCSC Ensembl
Innerchr20:21723464..21736893hg19UCSC Ensembl
Innerchr20:21671464..21684893hg18UCSC Ensembl
Cytoband20p11.22
Allele length
AssemblyAllele length
hg3813430
hg1913430
hg1813430
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962561
Supporting Variants
SamplesHGDP01307
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)nssv2232536
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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