A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262269



Internal ID22202319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31426743..31460799hg38UCSC Ensembl
Outerchr1:31899590..31933646hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg384489
hg194489
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212368
Supporting Variants
SamplesHG00732
Known GenesSERINC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262269
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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