A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895730



Internal ID171314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212624071..212624122hg38UCSC Ensembl
chr1:212797413..212797464hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402214
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895730
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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