A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030545



Internal ID19119764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:7407089..7470668hg38UCSC Ensembl
Innerchr5:7407202..7470781hg19UCSC Ensembl
Innerchr5:7460202..7523781hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3863580
hg1963580
hg1863580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5562n100
Supporting Variantsnssv3639635
Samples
Known GenesADCY2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030545
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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