A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575505



Internal ID16362914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49748304..49750342hg38UCSC Ensembl
Innerchr17:47825666..47827704hg19UCSC Ensembl
Innerchr17:45180665..45182703hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg382039
hg192039
hg182039
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv873312, nssv873311
Samples
Known GenesFAM117A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575505
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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