A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270553



Internal ID22204640
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224801
Supporting Variants
SamplesHG00732
Known GenesDNTTIP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270553
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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