A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043228



Internal ID19132447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:21548178..21721221hg38UCSC Ensembl
Innerchr11:21569724..21742767hg19UCSC Ensembl
Innerchr11:21526300..21699343hg18UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg38173044
hg19173044
hg18173044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3514917
Samples
Known GenesNELL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043228
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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