A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499069



Internal ID276049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35672119..35672203hg38UCSC Ensembl
chr13:36246256..36246340hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686855
Samples
Known GenesMIR548F5, NBEA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499069
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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