A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253528



Internal ID22199488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:102599434..102635038hg38UCSC Ensembl
Outerchr11:102470165..102505769hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg3835605
hg1935605
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211306
Supporting Variants
SamplesHG00732
Known GenesMMP20
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253528
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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