A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6400501



Internal ID21058054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128151948..128152414hg38UCSC Ensembl
chr5:127487640..127488106hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38467
hg19467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18125244
Samples
Known GenesSLC12A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6400501
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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