A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224801



Internal ID22368125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:93878086..93884648hg38UCSC Ensembl
Outerchr1:94343642..94350204hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg383022
hg193022
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270555, nssv14270549, nssv14270553, nssv14270552, nssv14270550, nssv14270554, nssv14270551
SamplesHG00512, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDNTTIP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224801
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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