A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426042



Internal ID204988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:4763210..4769600hg38UCSC Ensembl
chr1:4823270..4829660hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg386391
hg196391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906236
Samples
Known GenesAJAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426042
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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