A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14291806



Internal ID22184065
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526457
Supporting Variants
SamplesHG00731
Known GenesSPRR2B, SPRR2E
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14291806
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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