A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2248870



Internal ID17801565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39296860..39298484hg38UCSC Ensembl
Innerchr21:40668786..40670410hg19UCSC Ensembl
Innerchr21:39590656..39592280hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg381625
hg191625
hg181625
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962678
Supporting Variants
SamplesHGDP00778
Known GenesBRWD1
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)nssv2248870
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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