A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500536



Internal ID277469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46550846..46552097hg38UCSC Ensembl
chr11:46572396..46573647hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381252
hg191252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047343
Samples
Known GenesAMBRA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500536
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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