A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116933



Internal ID18917844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45452799..45452853hg38UCSC Ensembl
Outerchr21:46872713..46872767hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955756
SamplesKWS1
Known GenesCOL18A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116933
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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