A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262464



Internal ID22297794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:69909372..69926909hg38UCSC Ensembl
Outerchr1:70375055..70392592hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216820
Supporting Variants
SamplesNA19240
Known GenesLRRC7, PIN1P1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262464
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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