A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511895



Internal ID15504634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:70009692..70016745hg38UCSC Ensembl
Outerchr6:70719584..70726637hg19UCSC Ensembl
Outerchr6:70776305..70783358hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg387054
hg197054
hg187054
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624429
Samples1
Known GenesCOL19A1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511895
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