A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433692



Internal ID212397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120953835..120959835hg38UCSC Ensembl
chr1:144294140..144300140hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889978
Samples
Known GenesLOC100288142
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433692
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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