A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580112



Internal ID18878393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:106236275..106268889hg38UCSC Ensembl
Innerchr2:106852731..106885345hg19UCSC Ensembl
Innerchr2:106219163..106251777hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3832615
hg1932615
hg1832615
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999079
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3580112
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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