A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330175



Internal ID20863330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241516101..241521300hg38UCSC Ensembl
chr1:241679401..241684600hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg385200
hg195200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200610
Samples
Known GenesFH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330175
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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