A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511313



Internal ID15504052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:51871544..51871918hg38UCSC Ensembl
Outerchr6:51869365..51873189hg38UCSC Ensembl
Innerchr6:51736342..51736716hg19UCSC Ensembl
Outerchr6:51734163..51737987hg19UCSC Ensembl
Innerchr6:51844301..51844675hg18UCSC Ensembl
Outerchr6:51842122..51845946hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg383825
hg193825
hg183825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625377
Samples1
Known GenesPKHD1
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511313
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