A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16898188



Internal ID172936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244011809..244011852hg38UCSC Ensembl
chr1:244175111..244175154hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401901
Supporting Variants
Samples
Known GenesLOC339529
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16898188
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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