A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510612



Internal ID287223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:95252626..95252724hg38UCSC Ensembl
chr13:95904880..95904978hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694491
Samples
Known GenesABCC4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510612
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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