A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271763



Internal ID22299096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194396538..194401409hg38UCSC Ensembl
Outerchr3:194117267..194122138hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg384872
hg194872
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202665
Supporting Variants
SamplesNA19240
Known GenesGP5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271763
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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