A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125880



Internal ID18917993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:69920974..69921024hg38UCSC Ensembl
Outerchr6:70630866..70630916hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984087
SamplesKWS2
Known GenesCOL19A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125880
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