A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5405321



Internal ID184665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202895913..202895964hg38UCSC Ensembl
chr1:202865041..202865092hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894718
Samples
Known GenesKLHL12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5405321
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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