A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030953



Internal ID19120173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:132783362..132844975hg38UCSC Ensembl
Innerchr8:133795608..133857220hg19UCSC Ensembl
Innerchr8:133864790..133926402hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3861614
hg1961613
hg1861613
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7320n100
Supporting Variantsnssv3691559
Samples
Known GenesPHF20L1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030953
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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