A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218157



Internal ID22363596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:93071222..93142021hg38UCSC Ensembl
Outerchr7:92700535..92771334hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg3870800
hg1970800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277417
SamplesHG00731
Known GenesSAMD9, SAMD9L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218157
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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