A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030335



Internal ID18772866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:159936451..160003699hg38UCSC Ensembl
Innerchr5:159363458..159430706hg19UCSC Ensembl
Innerchr5:159296036..159363284hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3867249
hg1967249
hg1867249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5825n100
Supporting Variantsnssv3648226
Samples
Known GenesADRA1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030335
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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