A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022487



Internal ID18765021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:45935900..47480134hg38UCSC Ensembl
Innerchr8:46847522..48392696hg19UCSC Ensembl
Innerchr8:46966687..48555249hg18UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg381544235
hg191545175
hg181588563
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3757248
Samples
Known GenesLINC00293, LOC100287846, SPIDR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022487
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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