A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008944



Internal ID18751475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195549241..195715699hg38UCSC Ensembl
Innerchr3:195276060..195442570hg19UCSC Ensembl
Innerchr3:196757349..196928241hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38166459
hg19166511
hg18170893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5015n100
Supporting Variantsnssv3611387
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)nsv1008944
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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