A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18079724



Internal ID20646764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164899001..164899900hg38UCSC Ensembl
chr2:165755511..165756410hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6336406
Supporting Variants
Samples
Known GenesSLC38A11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18079724
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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