A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048304



Internal ID19137523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134486003..134858706hg38UCSC Ensembl
Innerchr11:134355897..134728600hg19UCSC Ensembl
Innerchr11:133861107..134233810hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38372704
hg19372704
hg18372704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1308n100
Supporting Variantsnssv3510775
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)nsv1048304
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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