A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200710



Internal ID20767750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246729298..246808760hg38UCSC Ensembl
chr1:246892600..246972062hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3879463
hg1979463
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6323183
Supporting Variants
Samples
Known GenesLOC149134, SCCPDH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200710
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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