A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227223



Internal ID22369786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:74822393..74923963hg38UCSC Ensembl
Outerchr7:74236921..74338970hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38858
hg19858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279487, nssv14279488
SamplesHG00512, HG00731
Known GenesGTF2IRD2, PMS2P5, STAG3L2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227223
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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