A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14369749



Internal ID22227244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101067255..101067306hg38UCSC Ensembl
chr13:101719607..101719658hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215395
Supporting Variants
SamplesHG00733
Known GenesNALCN
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14369749
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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