A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022895



Internal ID18765429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6497692..6557353hg38UCSC Ensembl
Innerchr8:6355213..6414874hg19UCSC Ensembl
Innerchr8:6342621..6402282hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3859662
hg1959662
hg1859662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3677431
Samples
Known GenesANGPT2, MCPH1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022895
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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