A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194367



Internal ID22344687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:17347749..17359357hg38UCSC Ensembl
Outerchr1:17674244..17685852hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3811609
hg1911609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256542, nssv14256541, nssv14256540
SamplesHG00731, HG00732, HG00733
Known GenesPADI4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194367
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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