A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14323755



Internal ID22260868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168704195..168704341hg38UCSC Ensembl
chr5:168131200..168131346hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525287
Supporting Variants
SamplesNA19238
Known GenesSLIT3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14323755
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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