A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226998



Internal ID22369620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158143103..158192003hg38UCSC Ensembl
Outerchr7:157935795..157984695hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3830946
hg1930946
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278707, nssv14278708, nssv14278703, nssv14278706, nssv14278704, nssv14278705, nssv14278709
SamplesNA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPTPRN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226998
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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