A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219730



Internal ID22363649
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280134, nssv14280135
SamplesHG00732, HG00733
Known GenesPTPRN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219730
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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