A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022233



Internal ID18764767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:56137350..56183459hg38UCSC Ensembl
Innerchr8:57049909..57096018hg19UCSC Ensembl
Innerchr8:57212463..57258572hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3846110
hg1946110
hg1846110
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7229n100
Supporting Variantsnssv3688700, nssv3688694, nssv3757272, nssv3688691, nssv3688684, nssv3688699, nssv3757275, nssv3688685, nssv3688698, nssv3688696, nssv3688692, nssv3757274, nssv3688697, nssv3688689, nssv3688695, nssv3688690, nssv3688683, nssv3757273, nssv3688687, nssv3688693, nssv3688686, nssv3688688, nssv3757276
Samples
Known GenesPLAG1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022233
Frequency
Sample Size29084
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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