A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449484



Internal ID227719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202904003..202904138hg38UCSC Ensembl
chr1:202873131..202873266hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894720
Samples
Known GenesKLHL12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449484
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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