A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991629



Internal ID19227465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:28161433..28166497hg38UCSC Ensembl
Outerchr21:29533752..29538816hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg385065
hg195065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136619
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991629
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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