A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272100



Internal ID22233746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:101427395..101449058hg38UCSC Ensembl
Outerchr3:101146239..101167902hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220673
Supporting Variants
SamplesHG00733
Known GenesSENP7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272100
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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