A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432700



Internal ID211437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36994617..36994661hg38UCSC Ensembl
chr13:37568754..37568798hg19UCSC Ensembl
Cytoband13q13.3
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 Variantsnssv17686926
Samples
Known GenesALG5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432700
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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