A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3510280



Internal ID18461875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45001..215757hg38UCSC Ensembl
Innerchr12:150430..324923hg19UCSC Ensembl
Innerchr12:20691..195184hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38170757
hg19174494
hg18174494
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1038621
Supporting Variants
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)nssv3510280
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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