A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200384



Internal ID20767424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120190201..120205300hg38UCSC Ensembl
chr1:145067646..145082734hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3815100
hg1915089
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6335320
Supporting Variants
Samples
Known GenesLOC100288142, NBPF9, PDE4DIP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200384
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00014


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