A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418152



Internal ID197334
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 StatusM
Merged Variants
Supporting Variantsnssv16902656
Samples
Known GenesCMPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418152
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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