A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17848032



Internal ID22031675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2194712..2194712hg38UCSC Ensembl
chr17:2098006..2098006hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6250547
Supporting Variants
Samples
Known GenesSMG6
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17848032
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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