A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008405



Internal ID18750936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142131685..142325141hg38UCSC Ensembl
Innerchr3:141850527..142043983hg19UCSC Ensembl
Innerchr3:143333217..143526673hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38193457
hg19193457
hg18193457
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4912n100
Supporting Variantsnssv3606120
Samples
Known GenesGK5, TFDP2, XRN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008405
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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