A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17851021



Internal ID22034664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169693909..169693909hg38UCSC Ensembl
chr2:170550419..170550419hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6243439
Supporting Variants
Samples
Known GenesCCDC173
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17851021
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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