A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2122807



Internal ID17769537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:51611845..51612940hg38UCSC Ensembl
Innerchr18:49138215..49139310hg19UCSC Ensembl
Innerchr18:47392213..47393308hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg381096
hg191096
hg181096
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961050
Supporting Variants
SamplesHGDP00542
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)nssv2122807
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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