A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571246



Internal ID16011969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2942113..2973604hg38UCSC Ensembl
Innerchr16:2992114..3023605hg19UCSC Ensembl
Innerchr16:2932115..2963606hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3831492
hg1931492
hg1831492
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv852258
Samples
Known GenesFLYWCH1, KREMEN2, PAQR4, PKMYT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571246
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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