A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970426



Internal ID47610
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 StatusS
Merged Variantsnsv5466172
Supporting Variants
Samples
Known GenesFAM172A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970426
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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