A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559102



Internal ID332146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141095766..141095774hg38UCSC Ensembl
chr5:140475350..140475358hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg389
hg199
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974584
Samples
Known GenesPCDHB2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559102
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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