A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929470



Internal ID22704724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:72934829..72935963hg38UCSC Ensembl
chr13:73508967..73510101hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg381135
hg191135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389276
Samples
Known GenesPIBF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929470
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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