A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517010



Internal ID293444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2011679..2012392hg38UCSC Ensembl
chr19:2011678..2012391hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38714
hg19714
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720332
Samples
Known GenesBTBD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517010
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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