A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625376



Internal ID15848909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17349796..17350701hg38UCSC Ensembl
Outerchr1:17348326..17354782hg38UCSC Ensembl
Innerchr1:17676291..17677196hg19UCSC Ensembl
Outerchr1:17674821..17681277hg19UCSC Ensembl
Innerchr1:17548878..17549783hg18UCSC Ensembl
Outerchr1:17547408..17553864hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg386457
hg196457
hg186457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511142
Supporting Variants
Samples1
Known GenesPADI4
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv625376
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