A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2121143



Internal ID17882642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:35842159..35851229hg38UCSC Ensembl
Innerchr18:33422123..33431193hg19UCSC Ensembl
Innerchr18:31676121..31685191hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg389071
hg199071
hg189071
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961046
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)nssv2121143
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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