A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555523



Internal ID328677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112604991..112605042hg38UCSC Ensembl
chr3:112323838..112323889hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16938320
Samples
Known GenesCCDC80
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555523
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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