A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974562



Internal ID50416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137801588..137801638hg38UCSC Ensembl
chr5:137137277..137137327hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454925
Supporting Variants
Samples
Known GenesNPY6R
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974562
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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