A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610004



Internal ID16050727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6544845..6915391hg38UCSC Ensembl
Innerchr8:6402366..6772913hg19UCSC Ensembl
Innerchr8:6389774..6760323hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38370547
hg19370548
hg18370550
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1105675
Samples
Known GenesAGPAT5, ANGPT2, DEFB1, LOC100652791, MCPH1, MIR4659A, MIR4659B, MIR8055, XKR5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610004
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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