A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571797



Internal ID16012520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28823100..28823849hg38UCSC Ensembl
Innerchr16:28834421..28835170hg19UCSC Ensembl
Innerchr16:28741922..28742671hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38750
hg19750
hg18750
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4984n54
Supporting Variantsnssv855463, nssv855466, nssv855462, nssv855461, nssv855464, nssv855465, nssv855460
Samples
Known GenesATXN2L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571797
Frequency
Sample Size17421
Observed Gain3
Observed Loss4
Observed Complex0
Frequencyn/a


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