A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245545



Internal ID22050155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:87657452..87657452hg38UCSC Ensembl
chr7:87286768..87286768hg19UCSC Ensembl
Cytoband7q21.12
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 Variantsnssv17838343
Samples
Known GenesABCB1, RUNDC3B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245545
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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