A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5466172



Internal ID244018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94039734..94044188hg38UCSC Ensembl
chr5:93375439..93379893hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg384455
hg194455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16970426
Samples
Known GenesFAM172A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5466172
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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