A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226075



Internal ID22369007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:154650003..154683504hg38UCSC Ensembl
Outerchr7:154441713..154475214hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg3833502
hg1933502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278203, nssv14278205, nssv14278204
SamplesNA19238, NA19240, HG00733
Known GenesDPP6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226075
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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