A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571795



Internal ID16012518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28822935..28824047hg38UCSC Ensembl
Innerchr16:28834256..28835368hg19UCSC Ensembl
Innerchr16:28741757..28742869hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381113
hg191113
hg181113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4985n54
Supporting Variantsnssv855455, nssv855458, nssv855454, nssv855456, nssv855457
Samples
Known GenesATXN2L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571795
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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