A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5627458



Internal ID21575763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130591387..130591387hg38UCSC Ensembl
chr7:130275656..130275656hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg38629
hg19629
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17159370
SamplesHG00731
Known GenesCOPG2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5627458
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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