A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6479321



Internal ID21136874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51281343..51285576hg38UCSC Ensembl
chr13:51855479..51859712hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg384234
hg194234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18009661
Samples
Known GenesFAM124A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6479321
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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