A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260242



Internal ID22268593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2303090..2338777hg38UCSC Ensembl
Outerchr1:2234529..2270216hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg383488
hg193488
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223091
Supporting Variants
SamplesNA19238
Known GenesMORN1, SKI
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260242
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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