A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17860049



Internal ID22043692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136879424..136879424hg38UCSC Ensembl
chr6:137200562..137200562hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6257241
Supporting Variants
Samples
Known GenesPEX7
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17860049
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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