A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16900635



Internal ID1214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2392726..2392840hg38UCSC Ensembl
chr1:2324165..2324279hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416539
Supporting Variants
Samples
Known GenesRER1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16900635
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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