A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6485848



Internal ID21143401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52671201..52673000hg38UCSC Ensembl
chr13:53245336..53247135hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18009740
Samples
Known GenesSUGT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6485848
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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