A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248430



Internal ID22376983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:17769199..17847270hg38UCSC Ensembl
Outerchr17:17672513..17750584hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381695
hg191695
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261314
SamplesHG00731
Known GenesMIR33B, MIR6777, RAI1, SMCR5, SREBF1, TOM1L2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248430
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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