A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3583034



Internal ID18534629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169863723..170244999hg38UCSC Ensembl
Innerchr2:170720233..171101509hg19UCSC Ensembl
Innerchr2:170428479..170809755hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38381277
hg19381277
hg18381277
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006657
Supporting Variants
Samples
Known GenesMYO3B, UBR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3583034
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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