A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3529390



Internal ID22398782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167004613..167004682hg38UCSC Ensembl
chr6:167418101..167418170hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14332173, nssv14332172, nssv14332175, nssv14332174, nssv14332177, nssv14332176
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known GenesFGFR1OP
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3529390
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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