A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208089



Internal ID22356384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247111006..247132087hg38UCSC Ensembl
Outerchr1:247274308..247295389hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3821082
hg1921082
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253002, nssv14253003
SamplesNA19238, HG00731
Known GenesC1orf229, ZNF124
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208089
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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