A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17857358



Internal ID22041001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:72971675..72971675hg38UCSC Ensembl
chr6:73681398..73681398hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6260846
Supporting Variants
Samples
Known GenesKCNQ5
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17857358
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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