A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2225827



Internal ID17867112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:234453673..234460718hg38UCSC Ensembl
Innerchr2:235362317..235369362hg19UCSC Ensembl
Innerchr2:235027056..235034101hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg387046
hg197046
hg187046
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961939
Supporting Variants
SamplesHGDP01284
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)nssv2225827
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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