A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17853914



Internal ID22037557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176916248..176916248hg38UCSC Ensembl
chr2:177780976..177780976hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6243501
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17853914
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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