A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2247946



Internal ID17749950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:30754944..30755916hg38UCSC Ensembl
Innerchr21:32127262..32128234hg19UCSC Ensembl
Innerchr21:31049133..31050105hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38973
hg19973
hg18973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962670
Supporting Variants
SamplesHGDP00521
Known GenesKRTAP21-1
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)nssv2247946
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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