A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14305256



Internal ID22255073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204553531..204554757hg38UCSC Ensembl
chr1:204522659..204523885hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381227
hg191227
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199004
Supporting Variants
SamplesNA19238
Known GenesMDM4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14305256
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer