A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502145



Internal ID279021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36224496..36228037hg38UCSC Ensembl
chr13:36798633..36802174hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg383542
hg193542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686888
Samples
Known GenesCCDC169, CCDC169-SOHLH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502145
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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