A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021684



Internal ID18764218
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 StatusM
Merged Variants
Supporting Variantsnssv3753989
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)nsv1021684
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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