A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3571246



Internal ID18869527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33889..252339hg38UCSC Ensembl
Innerchr2:33889..252339hg19UCSC Ensembl
Innerchr2:23889..242339hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38218451
hg19218451
hg18218451
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999035
Supporting Variants
Samples
Known GenesFAM110C, SH3YL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3571246
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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