A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3523629



Internal ID18821910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59162293..59251525hg38UCSC Ensembl
Innerchr12:59556074..59645306hg19UCSC Ensembl
Innerchr12:57842341..57931573hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3889233
hg1989233
hg1889233
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1039996
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)nssv3523629
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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