A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464897



Internal ID242768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33517575..33546824hg38UCSC Ensembl
chr5:33517680..33546929hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3829250
hg1929250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16964713
Samples
Known GenesADAMTS12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464897
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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