A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14348577



Internal ID22226584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:131254901..131258250hg38UCSC Ensembl
chr9:134130288..134133637hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg383350
hg193350
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219202
Supporting Variants
SamplesHG00733
Known GenesFAM78A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14348577
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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