A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994718



Internal ID18874377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:41844591..41845391hg38UCSC Ensembl
Outerchr21:43264700..43265500hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144006
Supporting Variants
SamplesKWS1
Known GenesPRDM15
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994718
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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