A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909682



Internal ID7230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8505080..8505131hg38UCSC Ensembl
chr2:8645210..8645261hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5410275
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909682
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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