A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449356



Internal ID227595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184002000..184007500hg38UCSC Ensembl
chr1:183971134..183976634hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385501
hg195501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892851
Samples
Known GenesCOLGALT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449356
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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