A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439773



Internal ID218305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211873483..211876135hg38UCSC Ensembl
chr1:212046825..212049477hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg382653
hg192653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895087
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439773
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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