A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2194720



Internal ID17407016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:108687001..108712756hg38UCSC Ensembl
Innerchr2:109303457..109329212hg19UCSC Ensembl
Innerchr2:108669889..108695644hg18UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3825756
hg1925756
hg1825756
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961855
Supporting Variants
SamplesHGDP00521
Known GenesLIMS1
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)nssv2194720
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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