A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18079852



Internal ID20646892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158369932..158370470hg38UCSC Ensembl
chr2:159226444..159226982hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6347442
Supporting Variants
Samples
Known GenesCCDC148
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18079852
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00058


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