A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241432



Internal ID22046042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6107845..6107845hg38UCSC Ensembl
chr1:6167905..6167905hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17847041
Samples
Known GenesCHD5
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241432
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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