A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999423



Internal ID18812273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195557541..195735445hg38UCSC Ensembl
Innerchr3:195284382..195462316hg19UCSC Ensembl
Innerchr3:196765671..196947987hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38177905
hg19177935
hg18182317
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5015n100
Supporting Variantsnssv3611413
Samples
Known GenesAPOD, MIR570, MUC20, SDHAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999423
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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