A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484153



Internal ID261573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:104767945..104773106hg38UCSC Ensembl
chr9:107530226..107535387hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg385162
hg195162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17026614
Samples
Known GenesNIPSNAP3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484153
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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