A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213726



Internal ID22360582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:17685724..17695017hg38UCSC Ensembl
Outerchr1:18012219..18021512hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381287
hg191287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261385, nssv14261384, nssv14261383, nssv14261377, nssv14261378, nssv14261379, nssv14261381, nssv14261382, nssv14261380
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesARHGEF10L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213726
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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