A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274687



Internal ID22198315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:44214965..44305815hg38UCSC Ensembl
Outerchr5:44215067..44305917hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3890851
hg1990851
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192473
Supporting Variants
SamplesHG00732
Known GenesFGF10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274687
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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