A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5588442



Internal ID21537005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:24957227..24957485hg38UCSC Ensembl
chr13:25531365..25531623hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17092981
SamplesHG01596
Known GenesTPTE2P1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5588442
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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