A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1109545



Internal ID19262769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:132624747..132624812hg38UCSC Ensembl
Outerchr3:132343591..132343656hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3957039
SamplesKWS1
Known GenesACAD11, NPHP3-ACAD11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1109545
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