A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508693



Internal ID285380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43457803..43463840hg38UCSC Ensembl
chr11:43479353..43485390hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg386038
hg196038
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17044027
Samples
Known GenesTTC17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508693
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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