A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6457601



Internal ID21115154
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 StatusM
Merged Variants
Supporting Variantsnssv18179953
Samples
Known GenesPTPRQ
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6457601
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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