A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16900475



Internal ID1106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28900486..28901097hg38UCSC Ensembl
chr1:29226998..29227609hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38612
hg19612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416046
Supporting Variants
Samples
Known GenesEPB41
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16900475
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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