A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14365636



Internal ID22263456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106727918..106728297hg38UCSC Ensembl
chr12:107121696..107122075hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38380
hg19380
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217861
Supporting Variants
SamplesNA19238
Known GenesLOC100287944, RFX4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14365636
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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