A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975415



Internal ID51001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141387659..141398100hg38UCSC Ensembl
chr5:140767226..140777667hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3810442
hg1910442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455858
Supporting Variants
Samples
Known GenesPCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975415
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000782


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