A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2221801



Internal ID17490467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:218134916..218135916hg38UCSC Ensembl
Innerchr2:218999639..219000639hg19UCSC Ensembl
Innerchr2:218707884..218708884hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961560
Supporting Variants
SamplesHGDP00998
Known GenesCXCR2
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)nssv2221801
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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