A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526457



Internal ID22395838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153071218..153094196hg38UCSC Ensembl
chr1:153043694..153066672hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3822979
hg1922979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14291806, nssv14291805
SamplesHG00512, HG00731
Known GenesSPRR2B, SPRR2E
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526457
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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