A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571182



Internal ID16011905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1961063..2024035hg38UCSC Ensembl
Innerchr16:2011064..2074036hg19UCSC Ensembl
Innerchr16:1951065..2014037hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3862973
hg1962973
hg1862973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4858n54
Supporting Variantsnssv852077
Samples
Known GenesGFER, NDUFB10, NOXO1, NPW, RNF151, RPS2, SNHG9, SNORA10, SNORA64, SNORA78, SYNGR3, TBL3, ZNF598
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571182
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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