A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255122



Internal ID22297789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:70352081..70373331hg38UCSC Ensembl
Outerchr11:70198187..70219437hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg384957
hg194957
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244719
Supporting Variants
SamplesNA19240
Known GenesPPFIA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255122
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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