A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246449



Internal ID22051059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183045284..183045284hg38UCSC Ensembl
chr1:183014419..183014419hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840176
Samples
Known GenesLAMC1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246449
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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