A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030014



Internal ID19119233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:132783362..132847076hg38UCSC Ensembl
Innerchr8:133795608..133859321hg19UCSC Ensembl
Innerchr8:133864790..133928503hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3863715
hg1963714
hg1863714
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7320n100
Supporting Variantsnssv3691560
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)nsv1030014
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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