A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv569389



Internal ID16010112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:49254066..49255593hg38UCSC Ensembl
Innerchr15:49546263..49547790hg19UCSC Ensembl
Innerchr15:47333555..47335082hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg381528
hg191528
hg181528
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv842964, nssv842968, nssv842965, nssv842967, nssv842966
Samples
Known GenesGALK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv569389
Frequency
Sample Size17421
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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