A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624445



Internal ID15501295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:104812597..104815911hg38UCSC Ensembl
Outerchr6:105260472..105263786hg19UCSC Ensembl
Outerchr6:105367165..105370479hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg383315
hg193315
hg183315
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511909
Supporting Variants
Samples1
Known GenesHACE1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv624445
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