A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6485812



Internal ID21143365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:46996562..46997103hg38UCSC Ensembl
chr14:47465765..47466306hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38542
hg19542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18019253
Samples
Known GenesMDGA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6485812
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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