A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6403441



Internal ID21060994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:136131401..136138300hg38UCSC Ensembl
chr5:135467090..135473989hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg386900
hg196900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214498
Samples
Known GenesSMAD5, SMAD5-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6403441
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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