A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219202



Internal ID22364297
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14348572, nssv14348578, nssv14348579, nssv14348573, nssv14348580, nssv14348577, nssv14348575, nssv14348574, nssv14348576
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFAM78A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219202
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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