A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432983



Internal ID211712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45356967..45357744hg38UCSC Ensembl
chr1:45822639..45823416hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38778
hg19778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902159
Samples
Known GenesTESK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432983
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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