A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542758



Internal ID317144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64605969..64605969hg38UCSC Ensembl
chr1:65071652..65071652hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904517
Samples
Known GenesCACHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542758
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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