A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202196



Internal ID22351393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21483106..21484716hg38UCSC Ensembl
chr1:21809599..21811209hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381611
hg191611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14355903, nssv14355900, nssv14355899, nssv14355902, nssv14355901
SamplesHG00512, NA19238, HG00731, HG00513, HG00514
Known GenesNBPF3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202196
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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