A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253525



Internal ID22184578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:88508456..88540518hg38UCSC Ensembl
Outerchr11:88241624..88273686hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3832063
hg1932063
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214893
Supporting Variants
SamplesHG00731
Known GenesGRM5, GRM5-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253525
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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