A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14316762



Internal ID22259982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8789302..8793871hg38UCSC Ensembl
chr1:8849361..8853930hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg384570
hg194570
Variant TypeOTHER sequence alteration
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238299
Supporting Variants
SamplesNA19238
Known GenesRERE
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14316762
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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