A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417487



Internal ID196682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:4702094..4702181hg38UCSC Ensembl
chr1:4762154..4762241hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906231
Samples
Known GenesAJAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417487
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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