A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428994



Internal ID207852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:81218682..81219648hg38UCSC Ensembl
chr1:81684367..81685333hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38967
hg19967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905439
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428994
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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