A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2119880



Internal ID17888608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:15163005..15381175hg38UCSC Ensembl
Innerchr18:15163004..15381174hg19UCSC Ensembl
Innerchr18:15153004..15371174hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38218171
hg19218171
hg18218171
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960267
Supporting Variants
SamplesHGDP01307
Known GenesLOC644669
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)nssv2119880
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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