A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212436



Internal ID20779476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:113487601..113488700hg38UCSC Ensembl
chr5:112823298..112824397hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6402188
Supporting Variants
Samples
Known GenesMCC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212436
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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