A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115611



Internal ID19283661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:12965879..13074979hg38UCSC Ensembl
Outerchr21:14338200..14447300hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38109101
hg19109101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977420
SamplesKWS2
Known GenesANKRD30BP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115611
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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