A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3526200



Internal ID18824481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130582622..130695842hg38UCSC Ensembl
Innerchr12:131067167..131180387hg19UCSC Ensembl
Innerchr12:129633120..129746340hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38113221
hg19113221
hg18113221
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1041335
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3526200
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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