A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14367984



Internal ID22303497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30637990..30640952hg38UCSC Ensembl
chr13:31212127..31215089hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg382963
hg192963
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220392
Supporting Variants
SamplesNA19240
Known GenesUSPL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14367984
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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