A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050466



Internal ID19139685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:83227120..83281121hg38UCSC Ensembl
Innerchr12:83620899..83674900hg19UCSC Ensembl
Innerchr12:82145030..82199031hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3854002
hg1954002
hg1854002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1534n100
Supporting Variantsnssv3524742, nssv3524740, nssv3524741
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)nsv1050466
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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