A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125577



Internal ID19253098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:101334376..101334484hg38UCSC Ensembl
Outerchr13:101986727..101986835hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983760
SamplesKWS2
Known GenesNALCN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125577
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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