A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2247424



Internal ID17748814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:33410869..33413190hg38UCSC Ensembl
Innerchr21:34783175..34785496hg19UCSC Ensembl
Innerchr21:33705045..33707366hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg382322
hg192322
hg182322
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965982
Supporting Variants
SamplesHGDP00521
Known GenesIFNGR2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2247424
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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