A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204002



Internal ID22352922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:113053134..113073373hg38UCSC Ensembl
Outerchr1:113595756..113615995hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3820240
hg1920240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267553, nssv14267556, nssv14267554, nssv14267555
SamplesNA19238, NA19239, HG00731, NA19240
Known GenesLOC100996251, LRIG2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204002
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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