A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999355



Internal ID18812205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195552380..195719714hg38UCSC Ensembl
Innerchr3:195279198..195446585hg19UCSC Ensembl
Innerchr3:196760487..196932256hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38167335
hg19167388
hg18171770
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5015n100
Supporting Variantsnssv3738469
Samples
Known GenesAPOD, MIR570, SDHAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999355
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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