A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265143



Internal ID22134794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:213270834..213336054hg38UCSC Ensembl
Outerchr2:214135558..214200778hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg383921
hg193921
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224621
Supporting Variants
SamplesHG00513
Known GenesLOC100130451, SPAG16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265143
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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