A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2215140



Internal ID17474094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197486354..197489175hg38UCSC Ensembl
Innerchr2:198351078..198353899hg19UCSC Ensembl
Innerchr2:198059323..198062144hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382822
hg192822
hg182822
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963757
Supporting Variants
SamplesHGDP00927
Known GenesHSPD1
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)nssv2215140
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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