A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192353



Internal ID22342953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:124366756..124377020hg38UCSC Ensembl
Outerchr3:124085603..124095867hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3810265
hg1910265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271694, nssv14271695
SamplesNA19239, HG00513
Known GenesKALRN, MIR6083
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192353
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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