A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2189812



Internal ID17473206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:96216515..96239873hg38UCSC Ensembl
Innerchr2:96882253..96905611hg19UCSC Ensembl
Innerchr2:96245980..96269338hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3823359
hg1923359
hg1823359
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963665
Supporting Variants
SamplesHGDP00927
Known GenesSTARD7-AS1
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)nssv2189812
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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