A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195548



Internal ID22345708
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14363863, nssv14363864
SamplesNA19238, NA19239
Known GenesGUCA2A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195548
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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