A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250027



Internal ID22377427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:71598120..71658506hg38UCSC Ensembl
Outerchr17:69594261..69654647hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg381443
hg191443
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262213, nssv14262215, nssv14262212, nssv14262260, nssv14262214
SamplesNA19238, NA19239, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250027
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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