A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2194869



Internal ID17506824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110096240..110101376hg38UCSC Ensembl
Innerchr2:110853817..110858953hg19UCSC Ensembl
Innerchr2:110211106..110216242hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg385137
hg195137
hg185137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961860
Supporting Variants
SamplesHGDP01029
Known GenesMALL
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)nssv2194869
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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