A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916060



Internal ID11423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71141110..71141113hg38UCSC Ensembl
chr2:71368240..71368243hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538245
Supporting Variants
Samples
Known GenesMPHOSPH10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916060
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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