A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055983



Internal ID18798514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57241678..57501063hg38UCSC Ensembl
Innerchr20:55816734..56076119hg19UCSC Ensembl
Innerchr20:55250141..55509525hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38259386
hg19259386
hg18259385
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3731495
Samples
Known GenesBMP7, CTCFL, MIR4325, MIR5095, MTRNR2L3, RAE1, RBM38, SPO11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055983
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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