A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429292



Internal ID208143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19434966..19435206hg38UCSC Ensembl
chr1:19761460..19761700hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900043
Samples
Known GenesCAPZB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429292
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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