A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235463



Internal ID22373299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81207206..81265592hg38UCSC Ensembl
Outerchr17:79181006..79239392hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg383440
hg193440
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261993, nssv14261991, nssv14261992, nssv14261990, nssv14261994
SamplesHG00512, NA19238, NA19239, HG00732, HG00513
Known GenesAZI1, C17orf89, ENTHD2, SLC38A10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235463
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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