A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246921



Internal ID22376563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:4831284..4858256hg38UCSC Ensembl
Outerchr17:4734579..4761551hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38491
hg19491
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260510, nssv14260509, nssv14260508
SamplesHG00512, NA19238, HG00731
Known GenesMINK1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246921
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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