A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3512402



Internal ID18463997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:16441515..16929033hg38UCSC Ensembl
Innerchr12:16594449..17081967hg19UCSC Ensembl
Innerchr12:16485716..16973234hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38487519
hg19487519
hg18487519
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1042630
Supporting Variants
Samples
Known GenesLMO3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3512402
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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