A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2219280



Internal ID17814820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:203671089..203672918hg38UCSC Ensembl
Innerchr2:204535812..204537641hg19UCSC Ensembl
Innerchr2:204244057..204245886hg18UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg381830
hg191830
hg181830
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979169
Supporting Variants
SamplesHGDP00927
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)nssv2219280
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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