A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493489



Internal ID270665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:98327299..98335091hg38UCSC Ensembl
chr7:97956611..97964403hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg387793
hg197793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000488
Samples
Known GenesBAIAP2L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493489
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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