A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489926



Internal ID267192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77240859..77241480hg38UCSC Ensembl
chr7:76870176..76870797hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38622
hg19622
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16998800
Samples
Known GenesCCDC146
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489926
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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