A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417708



Internal ID196898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145458793..145464193hg38UCSC Ensembl
chr1:145962426..145967824hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg385401
hg195399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890054
Samples
Known GenesLOC100288142, LOC101929780, NBPF10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417708
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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