A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043435



Internal ID19132654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:83227120..83278878hg38UCSC Ensembl
Innerchr12:83620899..83672657hg19UCSC Ensembl
Innerchr12:82145030..82196788hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3851759
hg1951759
hg1851759
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1535n100
Supporting Variantsnssv3524739, nssv3524737, nssv3524738, nssv3524736
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)nsv1043435
Frequency
Sample Size11257
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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