A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227944



Internal ID22370280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:205800493..205816616hg38UCSC Ensembl
Outerchr1:205769621..205785744hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275244
SamplesHG00732
Known GenesSLC41A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227944
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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