A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279532



Internal ID22270522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158583682..158604500hg38UCSC Ensembl
Outerchr7:158376374..158397192hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3810923
hg1910923
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229764
Supporting Variants
SamplesNA19239
Known GenesMIR5707, PTPRN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279532
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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