A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446597



Internal ID224920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203305945..203305996hg38UCSC Ensembl
chr1:203275073..203275124hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894873
Samples
Known GenesBTG2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446597
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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