A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031473



Internal ID19120695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:132783362..132848954hg38UCSC Ensembl
Innerchr8:133795608..133861199hg19UCSC Ensembl
Innerchr8:133864790..133930381hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3865593
hg1965592
hg1865592
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7320n100
Supporting Variantsnssv3691561
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)nsv1031473
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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