A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001677



Internal ID18744208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124015843..125108694hg38UCSC Ensembl
Innerchr3:123734690..124827538hg19UCSC Ensembl
Innerchr3:125217380..126310228hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381092852
hg191092849
hg181092849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3604534
Samples
Known GenesHEG1, ITGB5, KALRN, MIR5002, MIR6083, MUC13, SLC12A8, UMPS
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001677
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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