A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611554



Internal ID16398963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:74452670..74454628hg38UCSC Ensembl
Innerchr8:75364905..75366863hg19UCSC Ensembl
Innerchr8:75527460..75529418hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg381959
hg191959
hg181959
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12203n54
Supporting Variantsnssv1116990, nssv1116995, nssv1116993, nssv1116994, nssv1116996, nssv1116992, nssv1116991
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611554
Frequency
Sample Size17421
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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