A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050434



Internal ID19139653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52042..128355hg38UCSC Ensembl
Innerchr12:161208..237521hg19UCSC Ensembl
Innerchr12:31469..107782hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3876314
hg1976314
hg1876314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3520889
Samples
Known GenesIQSEC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050434
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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