A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895105



Internal ID170918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212107246..212107297hg38UCSC Ensembl
chr1:212280588..212280639hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401306
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895105
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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