A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441628



Internal ID220094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209586219..209587914hg38UCSC Ensembl
chr1:209759564..209761259hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381696
hg191696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896969
Samples
Known GenesCAMK1G
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441628
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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