A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17051994



Internal ID102510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:991279..991314hg38UCSC Ensembl
chr12:1100445..1100480hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538303
Supporting Variants
Samples
Known GenesERC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17051994
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005002


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