A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2248778



Internal ID17516232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39192446..39192946hg38UCSC Ensembl
Innerchr21:40564372..40564872hg19UCSC Ensembl
Innerchr21:39486242..39486742hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964495
Supporting Variants
SamplesHGDP01284
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)nssv2248778
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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