A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571456



Internal ID16012179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:11449038..11728210hg38UCSC Ensembl
Innerchr16:11542894..11822066hg19UCSC Ensembl
Innerchr16:11450395..11729567hg18UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38279173
hg19279173
hg18279173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150532
Samples1780862066_A
Known GenesLITAF, SNN, TXNDC11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571456
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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