A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190708



Internal ID22341535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42763201..42766750hg38UCSC Ensembl
chr2:42990341..42993890hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383550
hg193550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14292562, nssv14292567, nssv14292564, nssv14292560, nssv14292566, nssv14292565, nssv14292559, nssv14292561, nssv14292563
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesOXER1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190708
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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