A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444869



Internal ID22240798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:130470130..130470186hg38UCSC Ensembl
chr11:130340025..130340081hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220615
Supporting Variants
SamplesHG00733
Known GenesADAMTS15
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14444869
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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