A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277992



Internal ID22274798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:107717137..107734197hg38UCSC Ensembl
Outerchr7:107357582..107374642hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg382959
hg192959
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221902
Supporting Variants
SamplesNA19239
Known GenesSLC26A4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277992
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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