A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578218



Internal ID21526682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134127035..134128126hg38UCSC Ensembl
chr5:133462726..133463817hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381092
hg191092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17126516
SamplesHG00512
Known GenesTCF7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578218
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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