A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038946



Internal ID19128165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:16249943..16328201hg38UCSC Ensembl
Innerchr12:16402877..16481135hg19UCSC Ensembl
Innerchr12:16294144..16372402hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3878259
hg1978259
hg1878259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3506904
Samples
Known GenesSLC15A5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038946
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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