A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225631



Internal ID22368704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:155929372..155940614hg38UCSC Ensembl
Outerchr7:155722066..155733308hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3811243
hg1911243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278207, nssv14278206, nssv14278208
SamplesNA19238, HG00731, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225631
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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