A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265781



Internal ID22194807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:1572204..1605446hg38UCSC Ensembl
Outerchr2:1575976..1609218hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg382372
hg192372
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210776
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265781
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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