A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847041



Internal ID22030684
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 StatusS
Merged Variantsnsv6241432
Supporting Variants
Samples
Known GenesCHD5
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847041
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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