A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002629



Internal ID19091846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195855597..196042404hg38UCSC Ensembl
Innerchr3:195582468..195769275hg19UCSC Ensembl
Innerchr3:197066865..197253672hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38186808
hg19186808
hg18186808
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3616986
Samples
Known GenesMIR6829, SDHAP1, TNK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002629
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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