A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004986



Internal ID19094203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:57189069..57233921hg38UCSC Ensembl
Innerchr4:58055235..58100087hg19UCSC Ensembl
Innerchr4:57749992..57794844hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3844853
hg1944853
hg1844853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5217n100
Supporting Variantsnssv3626495
Samples
Known GenesIGFBP7-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004986
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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