A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212718



Internal ID20779758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:106981601..106982300hg38UCSC Ensembl
chr5:106317302..106318001hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6412901
Supporting Variants
Samples
Known GenesLOC102467213
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212718
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.28524


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer