A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254320



Internal ID22272663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196763652..196867679hg38UCSC Ensembl
Outerchr1:196732782..196836809hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38104028
hg19104028
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209410
Supporting Variants
SamplesNA19239
Known GenesCFHR1, CFHR3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254320
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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