A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999259



Internal ID18812109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195557541..195737983hg38UCSC Ensembl
Innerchr3:195284382..195464854hg19UCSC Ensembl
Innerchr3:196765671..196950525hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38180443
hg19180473
hg18184855
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5015n100
Supporting Variantsnssv3611414, nssv3611415
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)nsv999259
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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