A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118914



Internal ID18902016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:37345097..37346897hg38UCSC Ensembl
Outerchr20:35973500..35975300hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg381801
hg191801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981236
SamplesKWS1
Known GenesSRC
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118914
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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