A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194754



Internal ID22345027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:120986073..121031169hg38UCSC Ensembl
Outerchr3:120704920..120750016hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3845097
hg1945097
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270882
SamplesHG00732
Known GenesSTXBP5L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194754
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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