A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17851048



Internal ID22034691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172471513..172471513hg38UCSC Ensembl
chr2:173336241..173336241hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6243468
Supporting Variants
Samples
Known GenesITGA6
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17851048
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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