A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6319633



Internal ID20852728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246438028..246730077hg38UCSC Ensembl
chr1:246601330..246893379hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38292050
hg19292050
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200702
Samples
Known GenesCNST, LOC255654, SCCPDH, SMYD3, TFB2M
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6319633
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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