A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3593371



Internal ID18544966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53788292..53838726hg38UCSC Ensembl
Innerchr3:53822319..53872753hg19UCSC Ensembl
Innerchr3:53797359..53847793hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3850435
hg1950435
hg1850435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002375
Supporting Variants
Samples
Known GenesCACNA1D, CHDH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3593371
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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