A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2115974



Internal ID17749460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:13062012..13066207hg38UCSC Ensembl
Innerchr18:13062011..13066206hg19UCSC Ensembl
Innerchr18:13052011..13056206hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg384196
hg194196
hg184196
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960255
Supporting Variants
SamplesHGDP00521
Known GenesCEP192
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)nssv2115974
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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