A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254445



Internal ID22199800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:74311062..74345104hg38UCSC Ensembl
Outerchr11:74022107..74056149hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3834043
hg1934043
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225494
Supporting Variants
SamplesHG00732
Known GenesP4HA3, PGM2L1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254445
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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