A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241976



Internal ID22375123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:57417747..57442387hg38UCSC Ensembl
Outerchr8:58330306..58354946hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381107
hg191107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280539, nssv14280540
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241976
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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