A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231136



Internal ID22372145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:74214211..74218655hg38UCSC Ensembl
Outerchr15:74506552..74510996hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg381948
hg191948
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259611, nssv14259609, nssv14259612, nssv14259614, nssv14259613, nssv14259610, nssv14259606, nssv14259607, nssv14259608
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231136
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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