A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199339



Internal ID20766379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12752301..12953300hg38UCSC Ensembl
chr1:12812249..13013126hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38201000
hg19200878
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6319543
Supporting Variants
Samples
Known GenesC1orf158, HNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF2, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199339
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00104


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