A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5588713



Internal ID21537276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8840509..8840953hg38UCSC Ensembl
chr16:8934366..8934810hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17084130
SamplesHG00171
Known GenesPMM2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5588713
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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