A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212317



Internal ID22359607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:4659867..4678469hg38UCSC Ensembl
Outerchr10:4702059..4720661hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3818603
hg1918603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278598, nssv14278597, nssv14278601, nssv14278600, nssv14276407, nssv14278599
SamplesHG00512, NA19238, HG00732, HG00733, HG00513, HG00514
Known GenesLINC00704, LINC00705
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212317
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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