A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2116680



Internal ID17767105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12161217..12220799hg38UCSC Ensembl
Innerchr18:12161216..12220798hg19UCSC Ensembl
Innerchr18:12151216..12210798hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3859583
hg1959583
hg1859583
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960252
Supporting Variants
SamplesHGDP00542
Known GenesC18orf61
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)nssv2116680
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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