A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247052



Internal ID22376603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:7810659..7844218hg38UCSC Ensembl
Outerchr17:7713977..7747536hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381213
hg191213
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261103, nssv14261102, nssv14261106, nssv14261099, nssv14261104, nssv14261100, nssv14261101, nssv14261105
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDNAH2, KDM6B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247052
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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