A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430933



Internal ID209726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28623323..28633503hg38UCSC Ensembl
chr1:28949835..28960015hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg3810181
hg1910181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900450
Samples
Known GenesTAF12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430933
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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