A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5387n54



Internal ID20138811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:494867..994065hg38UCSC Ensembl
chr17:398107..897305hg19UCSC Ensembl
chr17:344857..844055hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38499199
hg19499199
hg18499199
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv574062, nsv574061
Samples
Known GenesDBIL5P, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5387n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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