A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280217



Internal ID22185236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158285671..158374210hg38UCSC Ensembl
Outerchr7:158078363..158166902hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg382378
hg192378
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214914
Supporting Variants
SamplesHG00731
Known GenesPTPRN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280217
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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