A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14369722



Internal ID22137408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100550299..100550423hg38UCSC Ensembl
chr13:101202553..101202677hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213924
Supporting Variants
SamplesHG00513
Known GenesGGACT
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14369722
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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