A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17859609



Internal ID22043252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130113127..130113127hg38UCSC Ensembl
chr6:130434272..130434272hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6257188
Supporting Variants
Samples
Known GenesL3MBTL3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17859609
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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