A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199171



Internal ID22348796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:40172722..40239597hg38UCSC Ensembl
Outerchr2:40399862..40466737hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3866876
hg1966876
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265294
SamplesHG00732
Known GenesSLC8A1, SLC8A1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199171
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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