A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125228



Internal ID18905728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46170188..46170263hg38UCSC Ensembl
Outerchr21:47590102..47590177hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978033
SamplesKWS2
Known GenesSPATC1L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125228
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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