A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908127



Internal ID6209
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 StatusS
Merged Variantsnsv5417612
Supporting Variants
Samples
Known GenesMAGI3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908127
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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