A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575094



Internal ID16362503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44353748..44355095hg38UCSC Ensembl
Innerchr17:42431116..42432463hg19UCSC Ensembl
Innerchr17:39786642..39787989hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381348
hg191348
hg181348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5609n54
Supporting Variantsnssv872231
Samples
Known GenesFAM171A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575094
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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