A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973394



Internal ID49646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122414081..122414380hg38UCSC Ensembl
chr5:121749776..121750075hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456998
Supporting Variants
Samples
Known GenesSNCAIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973394
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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