A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204180



Internal ID22353071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203110675..203110784hg38UCSC Ensembl
chr2:203975398..203975507hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296944, nssv14296946, nssv14296945
SamplesHG00512, NA19238, HG00513
Known GenesNBEAL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204180
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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