A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv569357



Internal ID16010080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:49252812..49254486hg38UCSC Ensembl
Innerchr15:49545009..49546683hg19UCSC Ensembl
Innerchr15:47332301..47333975hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg381675
hg191675
hg181675
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4518n54
Supporting Variantsnssv842550, nssv842551, nssv842552
Samples
Known GenesGALK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv569357
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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