A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025798



Internal ID18768330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:83654421..84334553hg38UCSC Ensembl
Innerchr6:84364140..85044271hg19UCSC Ensembl
Innerchr6:84420859..85100990hg18UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg38680133
hg19680132
hg18680132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648890
Samples
Known GenesCYB5R4, KIAA1009, MRAP2, RIPPLY2, SNAP91
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1025798
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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