A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199348



Internal ID22348944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:143482885..143516853hg38UCSC Ensembl
Outerchr3:143201727..143235695hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3833969
hg1933969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271719, nssv14271718
SamplesNA19239, NA19240
Known GenesSLC9A9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199348
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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