A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048120



Internal ID19137339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:19588241..19619267hg38UCSC Ensembl
Innerchr11:19609788..19640813hg19UCSC Ensembl
Innerchr11:19566364..19597389hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3831027
hg1931026
hg1831026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3710053
Samples
Known GenesNAV2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048120
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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