A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184001



Internal ID20751041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49281704..49297681hg38UCSC Ensembl
chr12:49675487..49691464hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3815978
hg1915978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6461988
Supporting Variants
Samples
Known GenesPRPH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184001
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00497


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