A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624895



Internal ID15848431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:48958804..48962542hg38UCSC Ensembl
Outerchr13:49532940..49536678hg19UCSC Ensembl
Outerchr13:48430941..48434679hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg383739
hg193739
hg183739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512315
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)nssv624895
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