A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6249270



Internal ID22053880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:71160551..71160551hg38UCSC Ensembl
chr13:71734683..71734683hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17845300
Samples
Known GenesLINC00348
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6249270
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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