A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486169



Internal ID263541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27619550..27623737hg38UCSC Ensembl
chr7:27659169..27663356hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg384188
hg194188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16994272
Samples
Known GenesHIBADH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486169
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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