A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6323183



Internal ID20856299
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 StatusM
Merged Variants
Supporting Variantsnssv18200710
Samples
Known GenesLOC149134, SCCPDH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6323183
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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