A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18082129



Internal ID20649169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177497981..177498659hg38UCSC Ensembl
chr2:178362709..178363387hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38679
hg19679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6338439
Supporting Variants
Samples
Known GenesAGPS
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18082129
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00019


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