A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218753



Internal ID22363999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148326780..148338369hg38UCSC Ensembl
Outerchr7:148023872..148035461hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg384570
hg194570
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278616, nssv14278615
SamplesNA19238, HG00731
Known GenesCNTNAP2, MIR548T
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218753
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer