A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191662



Internal ID22342337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:53119975..53141810hg38UCSC Ensembl
Outerchr1:53585647..53607482hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3821836
hg1921836
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257194, nssv14257195
SamplesNA19238, HG00731
Known GenesSLC1A7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191662
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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