A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557983



Internal ID16345392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30080517..30090540hg38UCSC Ensembl
Innerchr12:30233450..30243473hg19UCSC Ensembl
Innerchr12:30124717..30134740hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3810024
hg1910024
hg1810024
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2452n54
Supporting Variantsnssv790888, nssv790887, nssv790886, nssv790885
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557983
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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