A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041243



Internal ID18783774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45001..201405hg38UCSC Ensembl
Innerchr12:150430..310571hg19UCSC Ensembl
Innerchr12:20691..180832hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38156405
hg19160142
hg18160142
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1330n100
Supporting Variantsnssv3511015
Samples
Known GenesIQSEC3, LOC574538, SLC6A12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041243
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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