A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6256247



Internal ID22060857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:102983695..102983695hg38UCSC Ensembl
chr1:103449251..103449251hg19UCSC Ensembl
Cytoband1p21.1
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 Variantsnssv17858191
Samples
Known GenesCOL11A1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6256247
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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