A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5633001



Internal ID21581306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117612027..117612027hg38UCSC Ensembl
chr7:117252081..117252081hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17145713
SamplesHG03371
Known GenesCFTR
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5633001
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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