A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975414



Internal ID51000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141351659..141362000hg38UCSC Ensembl
chr5:140731226..140741567hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3810342
hg1910342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460895
Supporting Variants
Samples
Known GenesPCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGB1, PCDHGB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975414
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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