A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207705



Internal ID22356052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:66742350..66779662hg38UCSC Ensembl
Outerchr1:67208033..67245345hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3837313
hg1937313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257715
SamplesHG00731
Known GenesSGIP1, TCTEX1D1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207705
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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