A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525814



Internal ID301962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40786110..40786300hg38UCSC Ensembl
chr19:41292015..41292205hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723434
Samples
Known GenesMIA-RAB4B, RAB4B, RAB4B-EGLN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525814
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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