A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253583



Internal ID22058193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56142842..56142842hg38UCSC Ensembl
chr1:56608514..56608514hg19UCSC Ensembl
Cytoband1p32.2
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 Variantsnssv17854754
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253583
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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