A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494807



Internal ID271938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45180912..45185451hg38UCSC Ensembl
chr13:45755047..45759586hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg384540
hg194540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687386
Samples
Known GenesGTF2F2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494807
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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