A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520543



Internal ID296869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29713153..29713333hg38UCSC Ensembl
chr19:30204060..30204240hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17722664
Samples
Known GenesC19orf12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520543
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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