A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14363864



Internal ID22271961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42159196..42163251hg38UCSC Ensembl
chr1:42624867..42628922hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg384056
hg194056
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195548
Supporting Variants
SamplesNA19239
Known GenesGUCA2A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14363864
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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