A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600924



Internal ID16041647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:7823346..8206902hg38UCSC Ensembl
Innerchr6:7823579..8207135hg19UCSC Ensembl
Innerchr6:7768578..8152134hg18UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38383557
hg19383557
hg18383557
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1049103
Samples
Known GenesBLOC1S5, BLOC1S5-TXNDC5, BMP6, EEF1E1, EEF1E1-BLOC1S5, PIP5K1P1, SCARNA27, TXNDC5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600924
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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