A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280135



Internal ID22219660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158143103..158160589hg38UCSC Ensembl
Outerchr7:157935795..157953281hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg383424
hg193424
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219730
Supporting Variants
SamplesHG00733
Known GenesPTPRN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280135
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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