A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572945



Internal ID16013668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70632819..70806587hg38UCSC Ensembl
Innerchr16:70666722..70840490hg19UCSC Ensembl
Innerchr16:69224223..69397991hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38173769
hg19173769
hg18173769
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv859119
Samples
Known GenesIL34, MTSS1L, VAC14, VAC14-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572945
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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