A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2116367



Internal ID17750112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12097829..12098705hg38UCSC Ensembl
Innerchr18:12097828..12098704hg19UCSC Ensembl
Innerchr18:12087828..12088704hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38877
hg19877
hg18877
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960655
Supporting Variants
SamplesHGDP00521
Known GenesANKRD62
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)nssv2116367
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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