A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272807



Internal ID22183789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:90346673..90379177hg38UCSC Ensembl
Outerchr4:91267824..91300328hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3832505
hg1932505
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208001
Supporting Variants
SamplesHG00731
Known GenesCCSER1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272807
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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