A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248756



Internal ID22377073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:28222434..28244861hg38UCSC Ensembl
Outerchr17:26549460..26571887hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38796
hg19796
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261316
SamplesHG00731
Known GenesPYY2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248756
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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