A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215221



Internal ID22361623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:97259546..97286747hg38UCSC Ensembl
Outerchr10:99019303..99046504hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg3827202
hg1927202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1019n152
Supporting Variantsnssv14277398, nssv14277393, nssv14277394, nssv14277397, nssv14277395, nssv14277396, nssv14277399
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesARHGAP19, ARHGAP19-SLIT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215221
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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