A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496220



Internal ID273299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110473205..110474080hg38UCSC Ensembl
chr13:111125552..111126427hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38876
hg19876
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694165
Samples
Known GenesCOL4A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496220
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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