A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511707



Internal ID15851132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:102630017..102631613hg38UCSC Ensembl
Outerchr1:103095573..103097169hg19UCSC Ensembl
Outerchr1:102868161..102869757hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg381597
hg191597
hg181597
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626348
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511707
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