A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020970



Internal ID19110188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:51273349..51361590hg38UCSC Ensembl
Innerchr5:50569183..50657424hg19UCSC Ensembl
Innerchr5:50604940..50693181hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3888242
hg1988242
hg1888242
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3642123
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020970
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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