A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14314280



Internal ID22318181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235135084..235135268hg38UCSC Ensembl
chr1:235298399..235298583hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525429
Supporting Variants
SamplesNA19240
Known GenesRBM34
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14314280
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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