A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18081243



Internal ID20648283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165680801..165701600hg38UCSC Ensembl
chr2:166537311..166558110hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3820800
hg1920800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6343399
Supporting Variants
Samples
Known GenesCSRNP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18081243
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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