A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571184



Internal ID16011907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1965120..2038584hg38UCSC Ensembl
Innerchr16:2015121..2088585hg19UCSC Ensembl
Innerchr16:1955122..2028586hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3873465
hg1973465
hg1873465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4858n54
Supporting Variantsnssv1148899
SamplesHGDP00607
Known GenesGFER, NOXO1, NPW, RNF151, SLC9A3R2, SNHG9, SNORA78, SYNGR3, TBL3, ZNF598
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571184
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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