A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122041



Internal ID18902521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33402794..33403794hg38UCSC Ensembl
Outerchr21:34775100..34776100hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2381n106
Supporting Variantsnssv3969469
SamplesKWS2
Known GenesIFNGR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122041
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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