A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399532



Internal ID178920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108734131..108734182hg38UCSC Ensembl
chr1:109276753..109276804hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907888
Samples
Known GenesFNDC7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399532
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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