A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574061



Internal ID16014784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:494867..994065hg38UCSC Ensembl
Innerchr17:398107..897305hg19UCSC Ensembl
Innerchr17:344857..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 Variantsdgv5387n54
Supporting Variantsnssv864999
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)nsv574061
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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