A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008886



Internal ID18751417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241852289..242013681hg38UCSC Ensembl
Innerchr1:242015591..242176983hg19UCSC Ensembl
Innerchr1:240082214..240243606hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38161393
hg19161393
hg18161393
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3488003, nssv3488825, nssv3484450
Samples
Known GenesEXO1, MAP1LC3C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008886
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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