A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221961



Internal ID22366179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:64546906..64551442hg38UCSC Ensembl
Outerchr3:64532582..64537118hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg382512
hg192512
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271843, nssv14271844
SamplesNA19239, NA19240
Known GenesADAMTS9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221961
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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