A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325033



Internal ID22116245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134765274..134765673hg38UCSC Ensembl
chr5:134100964..134101363hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192261
Supporting Variants
SamplesHG00512
Known GenesDDX46
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14325033
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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