A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv551639



Internal ID16339048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:80453946..80454751hg38UCSC Ensembl
Innerchr10:82213702..82214507hg19UCSC Ensembl
Innerchr10:82203682..82204487hg18UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg38806
hg19806
hg18806
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1291n54
Supporting Variantsnssv751857, nssv751856
Samples
Known GenesTSPAN14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv551639
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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