A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214444



Internal ID20781484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:100468348..100566124hg38UCSC Ensembl
chr5:99804052..99901828hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3897777
hg1997777
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6411367
Supporting Variants
Samples
Known GenesFAM174A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214444
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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