A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511675



Internal ID15504414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6005797..6006740hg38UCSC Ensembl
Outerchr1:6065857..6066800hg19UCSC Ensembl
Outerchr1:5988444..5989387hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38944
hg19944
hg18944
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626313
Samples1
Known GenesKCNAB2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511675
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