A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv573888



Internal ID16014611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:170860..184412hg38UCSC Ensembl
Innerchr17:20651..34203hg19UCSC Ensembl
Innerchr17:20651..34203hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3813553
hg1913553
hg1813553
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5347n54
Supporting Variantsnssv864180, nssv864182, nssv864181, nssv864183, nssv864179, nssv864184
Samples
Known GenesDOC2B, LOC100506371
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv573888
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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