A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5587330



Internal ID21535889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110497737..110497864hg38UCSC Ensembl
chr13:111150084..111150211hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17093410
SamplesHG00512
Known GenesCOL4A2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5587330
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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