A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040037



Internal ID19129256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33373420..34304261hg38UCSC Ensembl
Innerchr12:33526355..34457196hg19UCSC Ensembl
Innerchr12:33417622..34348463hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38930842
hg19930842
hg18930842
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1433n100
Supporting Variantsnssv3511695
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)nsv1040037
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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