A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592943



Internal ID16380352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:193418687..193424553hg38UCSC Ensembl
Innerchr3:193136476..193142342hg19UCSC Ensembl
Innerchr3:194619170..194625036hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg385867
hg195867
hg185867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8818n54
Supporting Variantsnssv985697, nssv985693, nssv985691, nssv985687, nssv985689, nssv985692, nssv985694, nssv985688, nssv985698, nssv985690, nssv985696, nssv985695
Samples
Known GenesATP13A4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592943
Frequency
Sample Size17421
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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