A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2256083



Internal ID17863138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20730019..20732988hg38UCSC Ensembl
Innerchr22:21084307..21087276hg19UCSC Ensembl
Innerchr22:19414307..19417276hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382970
hg192970
hg182970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv962760
Supporting Variants
SamplesHGDP01284
Known GenesPI4KA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2256083
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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