A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17854013



Internal ID22037656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216336767..216336767hg38UCSC Ensembl
chr2:217201490..217201490hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6253379
Supporting Variants
Samples
Known GenesMARCH4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17854013
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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