A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229273



Internal ID22371172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:88112111..88114012hg38UCSC Ensembl
chr8:89124340..89126241hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg381902
hg191902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14342016, nssv14342019, nssv14342021, nssv14342022, nssv14342015, nssv14342017, nssv14342014, nssv14342018, nssv14342020
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMMP16
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229273
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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