A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179953



Internal ID20746993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80412670..80574091hg38UCSC Ensembl
chr12:80806450..80967870hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38161422
hg19161421
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457601
Supporting Variants
Samples
Known GenesPTPRQ
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179953
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00025


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