A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325760



Internal ID22326277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138965614..138965830hg38UCSC Ensembl
chr5:138301303..138301519hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38217
hg19217
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526927
Supporting Variants
SamplesNA19240
Known GenesSIL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14325760
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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