A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052748



Internal ID19141967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134481991..134860776hg38UCSC Ensembl
Innerchr11:134351885..134730670hg19UCSC Ensembl
Innerchr11:133857095..134235880hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38378786
hg19378786
hg18378786
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1308n100
Supporting Variantsnssv3515179
Samples
Known GenesLOC283177
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052748
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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