A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817615



Internal ID16056783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:51347101..51958317hg38UCSC Ensembl
Outerchr8:51339845..52110824hg38UCSC Ensembl
Innerchr8:52259661..52870877hg19UCSC Ensembl
Outerchr8:52252405..53023384hg19UCSC Ensembl
Innerchr8:52422214..53033430hg18UCSC Ensembl
Outerchr8:52414958..53185937hg18UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg38770980
hg19770980
hg18770980
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415559
Samples102
Known GenesPCMTD1, PXDNL
MethodSNP array
Analysis
PlatformIllumina Human1M-Duov3 DNA Analysis BeadChip (Human1M-Duov3_B)
Comments
ReferenceForsberg_et_al_2012
Pubmed ID22305530
Accession Number(s)nsv817615
Frequency
Sample Size6
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer