A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447458



Internal ID225761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:195503505..195561281hg38UCSC Ensembl
chr1:195472635..195530411hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3857777
hg1957777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894542
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447458
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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