A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3595249



Internal ID18546844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47825971..47995541hg38UCSC Ensembl
Innerchr3:47867461..48037031hg19UCSC Ensembl
Innerchr3:47842465..48012035hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38169571
hg19169571
hg18169571
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006560
Supporting Variants
Samples
Known GenesDHX30, MAP4, MIR1226
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3595249
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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