A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975619



Internal ID51139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148362931..148370375hg38UCSC Ensembl
chr5:147742494..147749938hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg387445
hg197445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460528
Supporting Variants
Samples
Known GenesLOC102546294
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975619
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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