A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431670



Internal ID210440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57619967..57620018hg38UCSC Ensembl
chr19:58131335..58131386hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724356
Samples
Known GenesZNF134
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431670
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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