A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003291



Internal ID19092510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:57185470..57222516hg38UCSC Ensembl
Innerchr4:58051636..58088682hg19UCSC Ensembl
Innerchr4:57746393..57783439hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3837047
hg1937047
hg1837047
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5216n100
Supporting Variantsnssv3625304, nssv3625302, nssv3625303
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)nsv1003291
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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