A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523721



Internal ID299946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45979777..45993172hg38UCSC Ensembl
chr18:43559743..43573138hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3813396
hg1913396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717871
Samples
Known GenesPSTPIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523721
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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