A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1035539



Internal ID18778070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119253..224079hg38UCSC Ensembl
Innerchr12:228419..333245hg19UCSC Ensembl
Innerchr12:98680..203506hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38104827
hg19104827
hg18104827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3503886
Samples
Known GenesIQSEC3, LOC574538, SLC6A12, SLC6A13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1035539
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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