A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5602192



Internal ID21550848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45435316..45436148hg38UCSC Ensembl
chr17:43512682..43513514hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38833
hg19833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17092413
SamplesHG00171
Known GenesPLEKHM1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5602192
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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