A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428243



Internal ID207122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149377587..149397743hg38UCSC Ensembl
chr1:145194741..145215972hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3820157
hg1921232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890548
Samples
Known GenesLOC100288142, NBPF9, NOTCH2NL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428243
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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