A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3753989



Internal ID18705584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6492570..6951933hg38UCSC Ensembl
Innerchr8:6350091..6809455hg19UCSC Ensembl
Innerchr8:6337499..6796865hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38459364
hg19459365
hg18459367
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1021684
Supporting Variants
Samples
Known GenesAGPAT5, ANGPT2, DEFA4, DEFA6, DEFA8P, DEFB1, LOC100652791, 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)nssv3753989
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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