A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025488



Internal ID18768020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:17490857..17898284hg38UCSC Ensembl
Innerchr6:17491088..17898515hg19UCSC Ensembl
Innerchr6:17599067..18006494hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38407428
hg19407428
hg18407428
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5922n100
Supporting Variantsnssv3654808
Samples
Known GenesCAP2, FAM8A1, KIF13A, NUP153
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1025488
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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