A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141490



Internal ID19276648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110385519..110385582hg38UCSC Ensembl
Outerchr13:111037866..111037929hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992996
SamplesKWS1
Known GenesCOL4A2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141490
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