A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600927



Internal ID16041650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:8057455..9333981hg38UCSC Ensembl
Innerchr6:8057688..9334214hg19UCSC Ensembl
Innerchr6:8002687..9442200hg18UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg381276527
hg191276527
hg181439514
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1049104
Samples
Known GenesBLOC1S5, BLOC1S5-TXNDC5, EEF1E1, EEF1E1-BLOC1S5, HULC, LOC100506207, SCARNA27, SLC35B3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600927
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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