A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253160



Internal ID22184180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:26087903..26106491hg38UCSC Ensembl
Outerchr9:26087901..26106489hg19UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg38941
hg19941
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240931
Supporting Variants
SamplesHG00731
Known GenesLOC100506422
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253160
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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