A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281000



Internal ID22118231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144543011..144567103hg38UCSC Ensembl
Outerchr8:145768395..145792487hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381085
hg191085
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247433
Supporting Variants
SamplesHG00512
Known GenesARHGAP39
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281000
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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