A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226334



Internal ID22369169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141919175..141931600hg38UCSC Ensembl
Outerchr7:141618975..141631400hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3812426
hg1912426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278786, nssv14278789, nssv14278788, nssv14278787
SamplesHG00512, NA19239, NA19240, HG00514
Known GenesCLEC5A, OR9A4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226334
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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