A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049591



Internal ID18792122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33354046..34623439hg38UCSC Ensembl
Innerchr12:33506981..34776374hg19UCSC Ensembl
Innerchr12:33398248..34667641hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg381269394
hg191269394
hg181269394
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1432n100
Supporting Variantsnssv3512058
Samples
Known GenesALG10, SYT10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049591
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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