A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200752



Internal ID22350158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:102471343..102478820hg38UCSC Ensembl
Outerchr2:103087803..103095279hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg387478
hg197477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264646
SamplesNA19238
Known GenesSLC9A4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200752
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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