A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227921



Internal ID22370264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:9543023..9614946hg38UCSC Ensembl
Outerchr7:9582653..9654576hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3871924
hg1971924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277311, nssv14277312
SamplesHG00512, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227921
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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