A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016620



Internal ID18759155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:132769940..132833582hg38UCSC Ensembl
Innerchr8:133782186..133845827hg19UCSC Ensembl
Innerchr8:133851368..133915009hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3863643
hg1963642
hg1863642
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7317n100
Supporting Variantsnssv3691547, nssv3691548
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)nsv1016620
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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