A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182257



Internal ID20749297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55047701..55053100hg38UCSC Ensembl
chr14:55514419..55519818hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg385400
hg195400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6495374
Supporting Variants
Samples
Known GenesMAPK1IP1L, SOCS4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182257
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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