A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5651002



Internal ID21599307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67494185..67494185hg38UCSC Ensembl
chr17:65490301..65490301hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17082843
SamplesNA24385
Known GenesPITPNC1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5651002
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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