A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417829



Internal ID197017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45560864..45562579hg38UCSC Ensembl
chr1:46026536..46028251hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381716
hg191716
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901823
Samples
Known GenesAKR1A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417829
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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