A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972947



Internal ID18261477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:45982946..45986038hg38UCSC Ensembl
Innerchr11:46004497..46007589hg19UCSC Ensembl
Innerchr11:45961073..45964165hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg383093
hg193093
hg183093
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2761067
SamplesHGDP00998
Known GenesPHF21A
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972947
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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