A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042624



Internal ID19131843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45001..130621hg38UCSC Ensembl
Innerchr12:150430..239787hg19UCSC Ensembl
Innerchr12:20691..110048hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3885621
hg1989358
hg1889358
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1327n100
Supporting Variantsnssv3519109, nssv3504436
Samples
Known GenesIQSEC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042624
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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