A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056042



Internal ID18798573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45721722..45754523hg38UCSC Ensembl
Innerchr20:44350361..44383162hg19UCSC Ensembl
Innerchr20:43783775..43816569hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3832802
hg1932802
hg1832795
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4321n100
Supporting Variantsnssv3731359, nssv3584930
Samples
Known GenesSPINT4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056042
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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