A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6239275



Internal ID22043885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:33143882..33143882hg38UCSC Ensembl
chr7:33183494..33183494hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17838869
Samples
Known GenesBBS9
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6239275
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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