A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245411



Internal ID22050021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75928799..75928799hg38UCSC Ensembl
chr7:75558117..75558117hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839007
Samples
Known GenesPOR
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245411
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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