A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225302



Internal ID22368479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:66432819..66440954hg38UCSC Ensembl
Outerchr2:66659951..66668086hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381031
hg191031
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267421
SamplesHG00732
Known GenesMEIS1, MEIS1-AS3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225302
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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