A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916849



Internal ID11963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:97671618..97687618hg38UCSC Ensembl
chr2:98288081..98304081hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3816001
hg1916001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439072
Supporting Variants
Samples
Known GenesLINC01125
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916849
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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