A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14304513



Internal ID22306498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207213580..207213921hg38UCSC Ensembl
chr1:207386925..207387266hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeOTHER sequence alteration
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558625
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14304513
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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