A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475985



Internal ID21133538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49304974..49312248hg38UCSC Ensembl
chr13:49879110..49886384hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg387275
hg197275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18009429
Samples
Known GenesCAB39L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475985
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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