A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248693



Internal ID22377056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41629109..41637071hg38UCSC Ensembl
Outerchr17:39785361..39793323hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381361
hg191361
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260654, nssv14260659, nssv14260658, nssv14260653, nssv14260652, nssv14260651, nssv14260655, nssv14260656, nssv14260657
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesKRT42P
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248693
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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