A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472625



Internal ID250330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:74777927..74825904hg38UCSC Ensembl
chr4:75703137..75751114hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3847978
hg1947978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16952330
Samples
Known GenesBTC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472625
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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