A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544667



Internal ID318792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126584671..126584671hg38UCSC Ensembl
chr5:125920363..125920363hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38991
hg19991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973235
Samples
Known GenesALDH7A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544667
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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