A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2114328



Internal ID17820724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:4998726..5003191hg38UCSC Ensembl
Innerchr18:4998725..5003190hg19UCSC Ensembl
Innerchr18:4988725..4993190hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg384466
hg194466
hg184466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960646
Supporting Variants
SamplesHGDP00927
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)nssv2114328
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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