A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407653



Internal ID186984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172471513..172471564hg38UCSC Ensembl
chr2:173336241..173336292hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922296
Samples
Known GenesITGA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407653
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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