A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245400



Internal ID22050010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72923124..72923124hg38UCSC Ensembl
chr7:72393661..72393661hg19UCSC Ensembl
Cytoband7q11.23
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 Variantsnssv17838996
Samples
Known GenesPOM121
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245400
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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