A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1037831



Internal ID18780362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33373420..34682902hg38UCSC Ensembl
Innerchr12:33526355..34835837hg19UCSC Ensembl
Innerchr12:33417622..34727104hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg381309483
hg191309483
hg181309483
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1432n100
Supporting Variantsnssv3504332
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)nsv1037831
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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