A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006220



Internal ID18748751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195557541..195751823hg38UCSC Ensembl
Innerchr3:195284382..195478694hg19UCSC Ensembl
Innerchr3:196765671..196964365hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38194283
hg19194313
hg18198695
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5015n100
Supporting Variantsnssv3611418
Samples
Known GenesAPOD, MIR570, MUC20, MUC4, SDHAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006220
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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