A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210910



Internal ID22358645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:62035502..62059474hg38UCSC Ensembl
Outerchr17:60112863..60136835hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3823973
hg1923973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260790
SamplesNA19239
Known GenesMED13
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210910
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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