A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2223423



Internal ID17766995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:227869716..227871358hg38UCSC Ensembl
Innerchr2:228734432..228736074hg19UCSC Ensembl
Innerchr2:228442676..228444318hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg381643
hg191643
hg181643
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961931
Supporting Variants
SamplesHGDP00542
Known Genes
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)nssv2223423
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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