A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953542



Internal ID17302416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:50715931..50735330hg38UCSC Ensembl
Outerchr18:48242301..48261700hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3819400
hg1919400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998877
SamplesBILGI_BIOE
Known GenesMAPK4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953542
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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