A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3752532



Internal ID18704127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:137502637..137934613hg38UCSC Ensembl
Innerchr7:137187383..137619359hg19UCSC Ensembl
Innerchr7:136837923..137269899hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38431977
hg19431977
hg18431977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1022793
Supporting Variants
Samples
Known GenesCREB3L2, DGKI
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3752532
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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