A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2115017



Internal ID17541690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:10911309..10917040hg38UCSC Ensembl
Innerchr18:10911307..10917038hg19UCSC Ensembl
Innerchr18:10901307..10907038hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg385732
hg195732
hg185732
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960650
Supporting Variants
SamplesHGDP01307
Known GenesPIEZO2
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)nssv2115017
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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