A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972369



Internal ID22747304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:34980352..34980352hg38UCSC Ensembl
chr11:35001899..35001899hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17359559
Samples
Known GenesPDHX
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972369
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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