A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6254421



Internal ID22059031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66600078..66600078hg38UCSC Ensembl
chr1:67065761..67065761hg19UCSC Ensembl
Cytoband1p31.3
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 Variantsnssv17854396
Samples
Known GenesSGIP1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6254421
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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