A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553548



Internal ID15994271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:12380210..12380747hg38UCSC Ensembl
Innerchr11:12401757..12402294hg19UCSC Ensembl
Innerchr11:12358333..12358870hg18UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg38538
hg19538
hg18538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1657n54
Supporting Variantsnssv768254, nssv768250, nssv768251, nssv768255, nssv768252, nssv768253
Samples
Known GenesPARVA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553548
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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