A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574492



Internal ID16015215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16491673..16492366hg38UCSC Ensembl
Innerchr17:16394987..16395680hg19UCSC Ensembl
Innerchr17:16335712..16336405hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38694
hg19694
hg18694
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5476n54
Supporting Variantsnssv868788, nssv868783, nssv868786, nssv868790, nssv868791, nssv868789, nssv868787, nssv868784, nssv868785, nssv868792
Samples
Known GenesFAM211A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574492
Frequency
Sample Size17421
Observed Gain9
Observed Loss1
Observed Complex0
Frequencyn/a


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