A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2115876



Internal ID17535126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12449631..12451711hg38UCSC Ensembl
Innerchr18:12449630..12451710hg19UCSC Ensembl
Innerchr18:12439630..12441710hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg382081
hg192081
hg182081
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978607
Supporting Variants
SamplesHGDP01307
Known GenesSPIRE1
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)nssv2115876
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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