A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14293547



Internal ID22256817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135214227..135218828hg38UCSC Ensembl
chr2:135971797..135976398hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg384602
hg194602
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203779
Supporting Variants
SamplesNA19238
Known GenesZRANB3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14293547
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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