A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18084117



Internal ID20651157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225419738..225424706hg38UCSC Ensembl
chr2:226284454..226289422hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg384969
hg194969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6343368
Supporting Variants
Samples
Known GenesNYAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18084117
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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