A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417612



Internal ID196803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113470304..113474256hg38UCSC Ensembl
chr1:114012926..114016878hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg383953
hg193953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908127
Samples
Known GenesMAGI3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417612
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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