A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261793



Internal ID22279286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:45485420..45505683hg38UCSC Ensembl
Outerchr1:45951092..45971355hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38823
hg19823
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213665
Supporting Variants
SamplesNA19239
Known GenesCCDC163P, MMACHC, TESK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261793
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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