A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3753990



Internal ID18705585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6615427..6829450hg38UCSC Ensembl
Innerchr8:6472948..6686972hg19UCSC Ensembl
Innerchr8:6460356..6674382hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38214024
hg19214025
hg18214027
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1025976
Supporting Variants
Samples
Known GenesAGPAT5, MCPH1, MIR4659A, MIR4659B, MIR8055, XKR5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3753990
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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