A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18089950



Internal ID20656990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46561024..46571698hg38UCSC Ensembl
chr2:46788163..46798837hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3810675
hg1910675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6336405
Supporting Variants
Samples
Known GenesLOC100506142, RHOQ
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18089950
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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