A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558927



Internal ID22427732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44813198..44818042hg38UCSC Ensembl
chr1:45278870..45283714hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg384845
hg194845
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14361958, nssv14361957
SamplesNA19239, NA19240
Known GenesBTBD19
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558927
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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