A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028551



Internal ID19117769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:132783362..132860065hg38UCSC Ensembl
Innerchr8:133795608..133872310hg19UCSC Ensembl
Innerchr8:133864790..133941492hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3876704
hg1976703
hg1876703
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7320n100
Supporting Variantsnssv3691565, nssv3691566
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)nsv1028551
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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