A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3523530



Internal ID18475125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:50240559..50390529hg38UCSC Ensembl
Innerchr12:50634342..50784312hg19UCSC Ensembl
Innerchr12:48920609..49070579hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38149971
hg19149971
hg18149971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1035796
Supporting Variants
Samples
Known GenesFAM186A, LIMA1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3523530
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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