A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902656



Internal ID2589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47362556..47364421hg38UCSC Ensembl
chr1:47828228..47830093hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg381866
hg191866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418152
Supporting Variants
Samples
Known GenesCMPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902656
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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