A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5645374



Internal ID21593679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28923162..28923162hg38UCSC Ensembl
chr17:27250180..27250180hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg385539
hg195539
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17084373
SamplesHG03009
Known GenesPHF12
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5645374
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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