A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253187



Internal ID22185391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:125452792..125462917hg38UCSC Ensembl
Outerchr9:128215071..128225196hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38743
hg19743
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237529
Supporting Variants
SamplesHG00731
Known GenesMAPKAP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253187
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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