A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625128



Internal ID15848664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:33819406..33821192hg38UCSC Ensembl
Outerchr18:31399370..31401156hg19UCSC Ensembl
Outerchr18:29653368..29655154hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381787
hg191787
hg181787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512525
Supporting Variants
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)nssv625128
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