A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273661



Internal ID22198135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2316525..2327702hg38UCSC Ensembl
Outerchr1:2247964..2259141hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3812440
hg1912440
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220139
Supporting Variants
SamplesHG00732
Known GenesMORN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273661
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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