A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325762



Internal ID22261099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139110068..139110170hg38UCSC Ensembl
chr5:138445757..138445859hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203449
Supporting Variants
SamplesNA19238
Known GenesSIL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14325762
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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