A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279638



Internal ID22278001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:70494417..70506949hg38UCSC Ensembl
Outerchr7:69959403..69971935hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg381595
hg191595
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227425
Supporting Variants
SamplesNA19239
Known GenesAUTS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279638
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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