A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330860



Internal ID20864018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:99003501..99005400hg38UCSC Ensembl
chr1:99469057..99470956hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202137
Samples
Known GenesLOC100129620, LPPR5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330860
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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