A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18084229



Internal ID20651269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197704901..197705500hg38UCSC Ensembl
chr2:198569625..198570224hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6339226
Supporting Variants
Samples
Known GenesMARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18084229
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.06391


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