A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1155516



Internal ID22086021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:50350980..50443180hg38UCSC Ensembl
Outerchr18:50341374..50445854hg38UCSC Ensembl
Innerchr18:47877350..47969550hg19UCSC Ensembl
Outerchr18:47867744..47972224hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38104481
hg19104481
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv146n97
Supporting Variantsnssv4011956
Samples
Known GenesSKA1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1155516
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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