A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212438



Internal ID22359688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:88224466..88259584hg38UCSC Ensembl
Outerchr7:87853781..87888899hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg3835119
hg1935119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277549
SamplesNA19238
Known GenesSRI
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212438
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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