A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427429



Internal ID206333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61806417..61811885hg38UCSC Ensembl
chr1:62272089..62277557hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg385469
hg195469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904450
Samples
Known GenesINADL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427429
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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