A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17852966



Internal ID22036609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86625682..86625682hg38UCSC Ensembl
chr2:86852805..86852805hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252715
Supporting Variants
Samples
Known GenesRNF103-CHMP3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17852966
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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