A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507746



Internal ID284459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46359908..46411705hg38UCSC Ensembl
chr11:46381458..46433255hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3851798
hg1951798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047334
Samples
Known GenesAMBRA1, CHRM4, DGKZ, MDK, MIR4688
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507746
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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