A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006362



Internal ID18748893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246137046..246191356hg38UCSC Ensembl
Innerchr1:246300348..246354658hg19UCSC Ensembl
Innerchr1:244366971..244421281hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3854311
hg1954311
hg1854311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3705569
Samples
Known GenesSMYD3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006362
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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