A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17433085



Internal ID22490955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139769244..139769303hg38UCSC Ensembl
chr7:139469043..139469102hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5913541
Supporting Variants
Samples
Known GenesHIPK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17433085
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1.00


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