A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433563



Internal ID212275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40488898..40489054hg38UCSC Ensembl
chr1:40954570..40954726hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901557
Samples
Known GenesZFP69
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433563
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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