A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416197



Internal ID195434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58783542..58783631hg38UCSC Ensembl
chr1:59249214..59249303hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903434
Samples
Known GenesJUN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416197
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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