A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897015



Internal ID172163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213139102..213146877hg38UCSC Ensembl
chr1:213312445..213320220hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg387776
hg197776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5451353
Supporting Variants
Samples
Known GenesRPS6KC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897015
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004998


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