A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502388



Internal ID279256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119000662..119001221hg38UCSC Ensembl
chr11:118871372..118871931hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38560
hg19560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052206
Samples
Known GenesCCDC84
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502388
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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