A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5604832



Internal ID21533287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73010310..73010310hg38UCSC Ensembl
chr2:73237439..73237439hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3830097
hg1930097
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17115022
SamplesNA20509
Known GenesSFXN5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5604832
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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