A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224003



Internal ID22367583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:44234985..44274122hg38UCSC Ensembl
Outerchr7:44274584..44313721hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg381059
hg191059
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278513, nssv14278517, nssv14278515, nssv14278514, nssv14278511, nssv14278512, nssv14278516
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513
Known GenesCAMK2B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224003
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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