A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4011956



Internal ID22073587
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155516
Supporting Variants
Samples
Known GenesSKA1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4011956
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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