A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14289610



Internal ID22278870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:125262092..125273459hg38UCSC Ensembl
Outerchr9:128024371..128035738hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38736
hg19736
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242488
Supporting Variants
SamplesNA19239
Known GenesGAPVD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14289610
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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