A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17851941



Internal ID22035584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70670152..70670152hg38UCSC Ensembl
chr2:70897284..70897284hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252587
Supporting Variants
Samples
Known GenesADD2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17851941
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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