A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475152



Internal ID252798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:131012766..131012899hg38UCSC Ensembl
chr9:133888153..133888286hg19UCSC Ensembl
Cytoband9q34.12
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028922
Samples
Known GenesLAMC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475152
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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