A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212988



Internal ID22360074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:70669899..70688649hg38UCSC Ensembl
Outerchr8:71582134..71600884hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3818751
hg1918751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279097, nssv14279096
SamplesHG00732, HG00733
Known GenesXKR9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212988
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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