A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571806



Internal ID16012529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28824884..29025594hg38UCSC Ensembl
Innerchr16:28836205..29036915hg19UCSC Ensembl
Innerchr16:28743706..28944416hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38200711
hg19200711
hg18200711
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4987n54
Supporting Variantsnssv855479
Samples
Known GenesATP2A1, ATXN2L, CD19, LAT, LOC100289092, MIR4517, MIR4721, NFATC2IP, RABEP2, SH2B1, SPNS1, TUFM
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571806
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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