A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16910168



Internal ID7550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18571667..18571794hg38UCSC Ensembl
chr2:18752933..18753060hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445308
Supporting Variants
Samples
Known GenesNT5C1B, NT5C1B-RDH14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16910168
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.048392


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