A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192761



Internal ID22343299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:149548434..149567374hg38UCSC Ensembl
Outerchr3:149266221..149285161hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3818941
hg1918941
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271096, nssv14271095
SamplesHG00512, HG00514
Known GenesWWTR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192761
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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