A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416367



Internal ID195595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59843330..59853582hg38UCSC Ensembl
chr1:60309002..60319254hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3810253
hg1910253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906029
Samples
Known GenesHOOK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416367
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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