A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003204



Internal ID18745735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53786043..53843122hg38UCSC Ensembl
Innerchr3:53820070..53877149hg19UCSC Ensembl
Innerchr3:53795110..53852189hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3857080
hg1957080
hg1857080
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4746n100
Supporting Variantsnssv3593370, nssv3593369
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)nsv1003204
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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