A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446328



Internal ID224652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207041227..207043249hg38UCSC Ensembl
chr1:207214572..207216594hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg382023
hg192023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894964
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446328
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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