A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610006



Internal ID16050729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6710680..7063882hg38UCSC Ensembl
Innerchr8:6568201..6921404hg19UCSC Ensembl
Innerchr8:6555609..6908814hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38353203
hg19353204
hg18353206
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156821
SamplesNINDS_20
Known GenesAGPAT5, DEFA1, DEFA10P, DEFA11P, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFA8P, DEFA9P, DEFB1, DEFT1P, DEFT1P2, LOC100652791, MIR4659A, MIR4659B, XKR5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610006
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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