A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028552



Internal ID18771083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6271700..6445990hg38UCSC Ensembl
Innerchr8:6129221..6303511hg19UCSC Ensembl
Innerchr8:6116629..6290919hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38174291
hg19174291
hg18174291
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6868n100
Supporting Variantsnssv3677387
Samples
Known GenesLOC100287015, MCPH1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028552
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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