A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969247



Internal ID18876729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:38528422..38528746hg38UCSC Ensembl
Outerchr21:39900346..39900670hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1121245
Supporting Variants
SamplesKWS1
Known GenesERG
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969247
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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