A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115617



Internal ID19274048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42949890..42955890hg38UCSC Ensembl
Outerchr21:44370000..44376000hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2396n106
Supporting Variantsnssv3977426
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115617
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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