A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018172



Internal ID18760705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:131797977..132121114hg38UCSC Ensembl
Innerchr8:132810224..133133361hg19UCSC Ensembl
Innerchr8:132879406..133202543hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38323138
hg19323138
hg18323138
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3757376
Samples
Known GenesEFR3A, HHLA1, KCNQ3, OC90
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018172
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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