A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2205934



Internal ID17847860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:136198915..136205942hg38UCSC Ensembl
Innerchr2:136956485..136963512hg19UCSC Ensembl
Innerchr2:136672955..136679982hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg387028
hg197028
hg187028
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961517
Supporting Variants
SamplesHGDP01029
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)nssv2205934
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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