A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121245



Internal ID18929243
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 StatusM
Merged Variantsdgv2387n106
Supporting Variantsnssv3964478, nssv3969247
SamplesKWS1, KWS2
Known GenesERG
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121245
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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