A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244300



Internal ID22048910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85674544..85674544hg38UCSC Ensembl
chr1:86140227..86140227hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17855967
Samples
Known GenesZNHIT6
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244300
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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