A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218334



Internal ID22363713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:38911010..38959631hg38UCSC Ensembl
Outerchr1:39376682..39425303hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg382062
hg192062
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261739, nssv14261738, nssv14261736, nssv14261735, nssv14261740, nssv14261742, nssv14261737, nssv14261741, nssv14261743
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRHBDL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218334
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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