A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211554



Internal ID22359078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:17305509..17329604hg38UCSC Ensembl
Outerchr17:17208823..17232918hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3824096
hg1924096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260537, nssv14260536, nssv14260535, nssv14260538, nssv14260534, nssv14260539, nssv14260540
SamplesHG00512, NA19238, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNT5M
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211554
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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