A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025591



Internal ID18768123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:1755786..2335806hg38UCSC Ensembl
Innerchr8:1703952..2281867hg19UCSC Ensembl
Innerchr8:1691359..2269274hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38580021
hg19577916
hg18577916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3675066
Samples
Known GenesARHGEF10, CLN8, KBTBD11, MIR596, MIR7160, MYOM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1025591
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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