A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508300



Internal ID284995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96652289..96679637hg38UCSC Ensembl
chr13:97304543..97331891hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg3827349
hg1927349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694036
Samples
Known GenesHS6ST3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508300
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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