A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020830



Internal ID19110048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50159790..50206410hg38UCSC Ensembl
Innerchr5:49455624..49502244hg19UCSC Ensembl
Innerchr5:49491381..49538001hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3846621
hg1946621
hg1846621
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3642048, nssv3642049, nssv3642044, nssv3642047, nssv3642042, nssv3642040, nssv3642046, nssv3642041, nssv3642039, nssv3642038, nssv3642045, nssv3642043
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)nsv1020830
Frequency
Sample Size11257
Observed Gain9
Observed Loss3
Observed Complex0
Frequencyn/a


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