A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6375105



Internal ID21032658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49749234..49819421hg38UCSC Ensembl
chr3:49786667..49856854hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3870188
hg1970188
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209369
Samples
Known GenesCDHR4, FAM212A, IP6K1, MIR5193, UBA7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6375105
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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