A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023833



Internal ID19113050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:132783362..132832263hg38UCSC Ensembl
Innerchr8:133795608..133844508hg19UCSC Ensembl
Innerchr8:133864790..133913690hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3848902
hg1948901
hg1848901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7319n100
Supporting Variantsnssv3691554, nssv3691556, nssv3691555
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)nsv1023833
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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