A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431664



Internal ID210434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55582969..55583085hg38UCSC Ensembl
chr1:56048642..56048758hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903345
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431664
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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