A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191736



Internal ID22342404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:107301585..107373025hg38UCSC Ensembl
Outerchr4:108222742..108294182hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3871441
hg1971441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274508, nssv14274505, nssv14274506, nssv14274507, nssv14274504
SamplesHG00512, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191736
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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