A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028712



Internal ID19117930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:46106721..46389159hg38UCSC Ensembl
Innerchr5:46106823..46389261hg19UCSC Ensembl
Innerchr5:46142580..46425018hg18UCSC Ensembl
Cytoband5p11
Allele length
AssemblyAllele length
hg38282439
hg19282439
hg18282439
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5644n100
Supporting Variantsnssv3637939, nssv3637930, nssv3637932, nssv3637934, nssv3637937, nssv3637929, nssv3637935, nssv3637936, nssv3637938, nssv3637933, nssv3637931, nssv3637928
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)nsv1028712
Frequency
Sample Size11257
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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