A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245252



Internal ID22049862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150373554..150373554hg38UCSC Ensembl
chr1:150346030..150346030hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17860028
Samples
Known GenesRPRD2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245252
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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