A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020640



Internal ID18763175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:52762996..52825024hg38UCSC Ensembl
Innerchr5:52058830..52120858hg19UCSC Ensembl
Innerchr5:52094587..52156615hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3862029
hg1962029
hg1862029
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3642127
Samples
Known GenesITGA1, PELO
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020640
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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