A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148044



Internal ID19201814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49498423..49498495hg38UCSC Ensembl
Outerchr13:50072559..50072631hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001552
SamplesKWB1
Known GenesPHF11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148044
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