A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000682



Internal ID18743213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151794802..151819929hg38UCSC Ensembl
Innerchr3:151512590..151537717hg19UCSC Ensembl
Innerchr3:152995280..153020407hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3825128
hg1925128
hg1825128
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4921n100
Supporting Variantsnssv3606304
Samples
Known GenesAADAC, MIR548H2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000682
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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