A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2205261



Internal ID17387496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:134964931..134977844hg38UCSC Ensembl
Innerchr2:135722501..135735414hg19UCSC Ensembl
Innerchr2:135438971..135451884hg18UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3812914
hg1912914
hg1812914
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961516
Supporting Variants
SamplesHGDP00456
Known GenesMAP3K19
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)nssv2205261
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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