A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3583043



Internal ID18534638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176208991..176292655hg38UCSC Ensembl
Innerchr2:177073719..177157383hg19UCSC Ensembl
Innerchr2:176781965..176865629hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3883665
hg1983665
hg1883665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006088
Supporting Variants
Samples
Known GenesMTX2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3583043
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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