A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194028



Internal ID22344399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:9224907..9249158hg38UCSC Ensembl
Outerchr1:9284966..9309217hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3824252
hg1924252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252740, nssv14252739
SamplesNA19239, NA19240
Known GenesH6PD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194028
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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