A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5617111



Internal ID21565416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156220543..156220543hg38UCSC Ensembl
chr1:156190334..156190334hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17060851
SamplesNA19238
Known GenesPMF1, PMF1-BGLAP
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5617111
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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