A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500142



Internal ID277084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36818988..36823148hg38UCSC Ensembl
chr13:37393125..37397285hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg384161
hg194161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686913
Samples
Known GenesRFXAP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500142
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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