A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198737



Internal ID22348425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219443251..219446900hg38UCSC Ensembl
chr2:220307973..220311622hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg383650
hg193650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296695, nssv14296696, nssv14296076, nssv14296075, nssv14296078, nssv14296697, nssv14296699, nssv14296077, nssv14296698
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSPEG
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198737
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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