A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227303



Internal ID22369838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:223473487..223487079hg38UCSC Ensembl
Outerchr1:223646829..223660421hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38980
hg19980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265589, nssv14265588, nssv14265584, nssv14265582, nssv14265587, nssv14265585, nssv14265586, nssv14265583
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227303
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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